1. Gene
  2. DDC - dopa decarboxylase Gene

DDC - dopa decarboxylase Gene

中文名称:多巴脱羧酶

种属: Homo sapiens

同用名: AADC

基因 ID: 1644 | 基因类型: protein coding

关于 DDC

Cytogenetic location: 7p12.2-p12.1 Genomic coordinates (GRCh38): 7:50,458,442-50,565,405 (from NCBI)

This gene has 14 transcripts (splice variants), 221 orthologues, 7 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 112.5), small intestine (RPKM 59.9) and 5 other tissues.

功能概要

编码的蛋白质催化 L-3,4-二羟基苯丙氨酸 (DOPA) 脱羧为多巴胺,L-5-羟色氨酸脱羧为血清素,L-色氨酸脱羧为色胺。该基因的缺陷是芳香族 L-氨基酸脱羧酶缺乏症 (AADCD) 的原因。 AADCD 缺乏症是神经递质代谢的先天性错误,会导致血清素和儿茶酚胺联合缺乏症。已经为该基因鉴定了编码不同同种型的多个选择性剪接的转录物变体。[RefSeq 提供,2011 年 6 月]

The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and Catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011]

DDC 基因产物(7)

mRNA Protein Name
NM_000790.4 NP_000781.2 aromatic-L-amino-acid decarboxylase isoform 1
NM_001082971.2 NP_001076440.2 aromatic-L-amino-acid decarboxylase isoform 1
NM_001242886.2 NP_001229815.2 aromatic-L-amino-acid decarboxylase isoform 2
NM_001242887.2 NP_001229816.2 aromatic-L-amino-acid decarboxylase isoform 3
NM_001242888.2 NP_001229817.2 aromatic-L-amino-acid decarboxylase isoform 4
NM_001242889.2 NP_001229818.2 aromatic-L-amino-acid decarboxylase isoform 5
NM_001242890.2 NP_001229819.2 aromatic-L-amino-acid decarboxylase isoform 6
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 5-hydroxy-L-tryptophan decarboxylase activity IDA
IDA: 通过直接分析推断
16338639 GOA
enables L-dopa decarboxylase activity IDA
IDA: 通过直接分析推断
19703902 GOA
enables aromatic-L-amino-acid decarboxylase activity IDA
IDA: 通过直接分析推断
16338639 GOA
enables enzyme binding IPI
IPI: 通过物理相互作用推断
19703902 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12864730 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in dopamine biosynthetic process IDA
IDA: 通过直接分析推断
19703902 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

DDC 蛋白结构

Pyridoxal_deC

Pyridoxal_deC: Pyridoxal-dependent decarboxylase conserved domain (35 - 414)

  • 0
  • 100
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  • 400
  • 480 a.a.
蛋白主名 其他名称

aromatic-L-amino-acid decarboxylase

dopa decarboxylase (aromatic L-amino acid decarboxylase)

关联疾病

疾病名称 别名
Aromatic L-Amino Acid Decarboxylase Deficiency

Aadc Deficiency

Dopa Decarboxylase Deficiency

Ddc Deficiency

Aromatic Amino Acid Decarboxylase Deficiency

Deficiency Of Aromatic-L-Amino-Acid Decarboxylase

AADCD

Aromatic-L-Amino-Acid Decarboxylase Deficiency

Aromatic L-Amino-Acid Decarboxylase Deficiency

Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia

APS1

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

Apeced

Pga I

Hypoadrenocorticism With Hypoparathyroidism And Superficial Moniliasis

Autoimmune Polyendocrinopathy Syndrome , Type I, With Or Without Reversible Metaphyseal Dysplasia

Polyglandular Autoimmune Syndrome, Type 1

Autoimmune Polyglandular Syndrome Type 1

Autoimmune Polyendocrine Syndrome Type 1

Autoimmune Polyendocrinopathy Syndrome Type 1

Whitaker Syndrome

Aps Type 1

Polyglandular Type I Autoimmune Syndrome

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome

Aps I

Autoimmune Polyglandular Syndrome, Type I

Polyglandular Autoimmune Syndrome, Type I

Aps 1

Autoimmune Polyglandular Syndrome Type I

Pga 1

Pga-I

Polyglandular Autoimmune Syndrome Type 1

Type I Polyglandular Autoimmune Syndrome

Aire Deficiency

Autoimmune Polyendocrinopathy With Candidiasis And Ectodermal Dystrophy

Autoimmune Polyglandular Syndrome, Type 1

Autoimmune Polyendocrinopathy Type 1

Apeced Syndrome

Autoimmune Hypoparathyroidism-Chronic Candidiasis-Addison Disease Syndrome

Ham Syndrome

Hypoparathyroidism-Addison Disease-Mucocutaneous Candidiasis Syndrome

Medac Syndrome

Multiple Endocrine Deficiency-Addison Disease-Candidiasis Syndrome

Autoimmune Polyendocrine Syndrome 1, With Or Without Reversible Metaphyseal Dysplasia

Aps-1

Autoimmune Polyendocrine Syndrome Type I

Autoimmune Polyendocrinopathy Syndrome Type I

Autosomal Dominant Autoimmune Polyendocrinopathy Syndrome Type I

Polyglandular Autoimmune Syndrome Type I

Polyglandular Deficiency Syndrome Persian-Jewish Type

Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant

Polyendocrinopathy Autoimmune, Type 1, With/Without Reversible Metaphyseal Dysplasia

Oculogyric Crisis
Hypoadrenocorticism, Familial

Addison Disease

Primary Adrenocortical Insufficiency

Addison'S Disease

Adrenal Gland Hypofunction

Adrenal Hypoplasia

Adrenal Aplasia

Addison Disease, Chronic Adrenal Insufficiency

Primary Hypoadrenalism

Hypoadrenocorticism Familial

Autoimmune Addison Disease

Autoimmune Adrenalitis

Classic Addison Disease

Primary Addison Disease

Addisons Disease

Addison Disease, Susceptibility To

Autoimmune Primary Adrenal Insufficiency

Addison'S Disease Due To Autoimmunity

Autoimmune Hepatitis

Aih

Hepatitis, Autoimmune

Autoimmune Chronic Active Hepatitis

Autoimmune Hepatitis With Centrilobular Necrosis

Autoimmune Chronic Hepatitis

Hepatitis Autoimmune

Pure Autonomic Failure

Orthostatic Hypotension

Idiopathic Orthostatic Hypotension

Postural Hypotension

Bradbury-Eggleston Syndrome

Bradbury Eggleston Syndrome

Hypotension, Orthostatic

Hypotension, Postural

Paf

Pure Dysautonomia

Pure Idiopatic Dysautonomia

Hypotension Orthostatic

Primary Orthostatic Hypotension

Chronic Orthostatic Hypotension

Dopamine Beta-Hydroxylase Deficiency

Noradrenaline Deficiency

Norepinephrine Deficiency

Dopamine Beta Hydroxylase Deficiency

Congenital Dopamine Beta-Hydroxylase Deficiency

Dopamine Beta-Hydroxylase Deficiency, Congenital

Dopamine Β-Hydroxylase

Dbh Deficiency

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Parkinsonism

Parkinsonism-Plus

Idiopathic Parkinsonism

Primary Parkinsonism

Paralysis Agitans Syndrome

Parkinsonian Syndrome

Trembling Paralysis

Paralysis Agitans

Shaking Palsy

Shaking Paralysis

Pheochromocytoma

Pheochromocytoma, Susceptibility To

Phaeochromocytoma

Adrenal Gland Chromaffin Paraganglioma

Adrenal Gland Chromaffinoma

Adrenal Gland Paraganglioma

Adrenal Gland Pheochromocytoma

Chromaffin Paraganglioma Of The Adrenal Gland

Intraadrenal Paraganglioma

PCC

Chromaffin Cell Tumor

Medullary Chromaffinoma

Medullary Paraganglioma

Pheochromoblastoma

Pheochromocytomas

Chromaffin Cell Neoplasm

Pheochromocytoma, Malignant

Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

Vitiligo

VAMAS1

Slev1

Vtlg

Systemic Lupus Erythematosus, Vitiligo-Related

Vitiligo-Associated Multiple Autoimmune Disease 1

Systemic Lupus Erythematosus Vitiligo-Related

Movement Disease

Movement Disorders

Movement Disorder

Personality Disorder

Personality Disorders

Character Disorder

Personality

Specific Personality Disorders

Enduring Personality Change After Psychiatric Illness

Fabry Disease

Alpha-Galactosidase A Deficiency

Anderson-Fabry Disease

Angiokeratoma Corporis Diffusum

Ceramide Trihexosidase Deficiency

Fabry Disease, Cardiac Variant

Fabry'S Disease

Hereditary Dystopic Lipidosis

Gla Deficiency

FD

Alpha Galactosidase Deficiency

Deficiency Of Melibiase

Angiokeratoma, Diffuse

Angiokeratoma Diffuse

Diffuse Angiokeratoma

Dissociated Nystagmus
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency

Sepiapterin Reductase Deficiency

Spr Deficiency

Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency

Srd

Drd Due To Srd

Dopa-Responsive Hypersomnia

Dyt-Spr

Dyt/Park-Spr

Sr-Deficient Drd

Autosomal Recessive Sepiapterin Reductase-Deficient Drd

Spr

DRDSPRD

Motor And Cognitive Disorder Due To Sepiapterin Reductase Deficiency

Psychomotor Disorders

Hyperphenylalaninemia, Bh4-Deficient, A

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Pts Deficiency

HPABH4A

Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency

Ptsd

Bh4-Deficient Hyperphenylalaninemia A

Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency

Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency

Hyperphenylalanemia, Bh4-Deficient, A

Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

6-Pyruvoyltetrahydropterin Synthase Deficiency

Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency

Ptpsd

Hyperphenylalaninemia, Bh4-Deficient, Type A

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Pnpo Deficiency

Pyridoxamine 5'-Phosphate Oxidase Deficiency

Pnpo-Related Neonatal Epileptic Encephalopathy

Pyridoxal Phosphate-Responsive Seizures

Pyridoxal 5'-Phosphate-Dependent Epilepsy

Pyridoxine-5'-Phosphate Oxidase Deficiency

PNPOD

Seizures, Pyridoxine-Resistant, Plp-Sensitive

Pyridoxal Phosphate-Dependent Seizures

Pyridoxamine 5'-Oxidase Deficiency

Epileptic Encephalopathy, Neonatal, Pnpo-Related

Pyridox Ine 5'-Phosphate Oxidase Deficiency

Deficiency, Pyridoxamine 5'-Phosphate Oxidase

Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

Paraganglioma

Chemodectoma

Glomus Body Tumor

Paragangliomas

Carotid Body Paraganglioma

Extra-Adrenal Paraganglioma

Canavan Disease

Aspartoacylase Deficiency

Aminoacylase 2 Deficiency

Spongy Degeneration Of Central Nervous System

Aspa Deficiency

Acy2 Deficiency

Canavan-Van Bogaert-Bertrand Disease

Mild Canavan Disease

Asp Deficiency

Spongy Degeneration Of The Central Nervous System

Severe Canavan Disease

Von Bogaert-Bertrand Disease

Canavan'S Disease

Spongy Degeneration Of The Brain

Juvenile Canavan Disease

Infantile Canavan Disease

Neonatal Canavan Disease

CAND

Disease, Canavan

Canavan Disease, Juvenile

Canavan Disease, Infantile

Canavan Disease, Neonatal

Hyperinsulinism

Hyperinsulinemia

Impulse Control Disorder

Disruptive, Impulse Control, And Conduct Disorders

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Focal Dystonia

Dystonia, Focal, Task-Specific

Sudden Infant Death Syndrome

SIDS

Sudden Infant Death Syndrome, Susceptibility To

Cot Death

Crib Death

Sudden Death Of Nonspecific Cause In Infancy

Sudden Infant Death

Death, Sudden, Syndrome, Infant

Vascular Parkinsonism
Autoimmune Disease

Autoimmune Diseases

Autoimmune Hypersensitivity Disease

Hypersensitivity Reaction Type Ii Disease

Type Ii Hypersensitivity Reaction Disease

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Spinal Muscular Atrophy, Type I

Werdnig-Hoffmann Disease

SMA1

Spinal Muscular Atrophy 1

Sma I

Sma, Infantile Acute Form

Muscular Atrophy, Infantile

Spinal Muscular Atrophy-1

Hmn Proximal Type I

Infantile Muscular Atrophy

Proximal Spinal Muscular Atrophy Type 1

Sma Type 1

Sma Type I

Sma-I

Hereditary Motor Neuropathy Proximal Type I

Progressive Muscular Atrophy Of Infancy

Proximal Spinal Muscular Atrophy, Type 1

Werdnig Hoffmann Disease

Infantile Spinal Muscular Atrophy

Infantile-Onset Spinal Muscular Atrophy

Proximal Hereditary Motor Neuropathy Type I

Sma Infantile Acute Form

Spinal Muscular Atrophy Type I

Werdnig-Hoffman Disease

Atrophy, Muscular, Spinal, Type 1

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Ewing Sarcoma

Neuroepithelioma

Ewing'S Tumor

Primitive Neuroectodermal Tumor

Ewings Sarcoma

Ewing'S Sarcoma

Peripheral Neuroepithelioma

ES

Ewings Sarcoma-Primitive Neuroectodermal Tumor

Localized Peripheral Primitive Neuroectodermal Tumor

Peripheral Primitive Neuroectodermal Tumor

Ewing Tumor

Sarcoma, Ewing'S

Ewing Family Of Tumors

Extraosseous Ewing Tumor

Askin Tumor

Ewing'S Family Localized Tumor

Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing Sarcoma

Localized Ewing'S Sarcoma

Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing'S Tumor

Pnet Of Thoracopulmonary Region

Tumor Of The Ewing Family

Skeletal Ewing Sarcoma

Osseous Ewing Sarcoma

Ppnet

Peripheral Pnet

Extraskeletal Ewing Sarcoma

Eoe

Extraosseous Ewing Sarcoma

Extraskeletal Ewing Tumor

Esft

Ewing Sarcoma Family Of Tumors

Pne

Pnet

Pnet Of The Chest Wall

Sarcoma, Ewing

Neuroectodermal Tumors, Primitive, Peripheral

Neuroectodermal Tumor, Primitive

Disorder Of Eye

Askin'S Tumor

Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor

Neuroepithelioma, Peripheral

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Bos taurus DDC VGNC VGNC:55748
Mus musculus DDC MGD MGI:94876
Canis familiaris DDC VGNC VGNC:39831
Felis catus DDC VGNC VGNC:61388
Macaca mulatta DDC VGNC VGNC:71755
Rattus norvegicus DDC RGD RGD:2494
Others DDC NCBI