ALDH4A1 - aldehyde dehydrogenase 4 family member A1 Gene

中文名称：醛脱氢酶 4 家族成员 A1

种属: Homo sapiens

同用名: P5CD; ALDH4; P5CDh

基因 ID: 8659 | 基因类型: protein coding

关于 ALDH4A1

Cytogenetic location: 1p36.13 Genomic coordinates (GRCh38): 1:18,871,430-18,902,555 (from NCBI)

This gene has 6 transcripts (splice variants), 200 orthologues, 17 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 122.2), liver (RPKM 68.8) and 8 other tissues.

功能概要

这种蛋白质属于蛋白质的醛脱氢酶家族。这种酶是一种线粒体基质 NAD 依赖性脱氢酶，可催化脯氨酸降解途径的第二步，将吡咯啉-5-羧酸盐转化为谷氨酸盐。这种酶的缺乏与 II 型高脯氨酸血症有关，II 型高脯氨酸血症是一种常染色体隐性遗传病，其特征是 delta-1-pyrroline-5-carboxylate (P5C) 和脯氨酸的积累。已经为该基因鉴定了编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2009 年 6 月]

This protein belongs to the aldehyde dehydrogenase family of proteins. This Enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this Enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]

ALDH4A1 基因产物(4)

mRNA	Protein	Name
NM_001161504.2	NP_001154976.1	delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform b
NM_001319218.2	NP_001306147.1	delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform c precursor
NM_003748.4	NP_003739.2	delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform a precursor
NM_170726.3	NP_733844.1	delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform a precursor

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables aldehyde dehydrogenase (NAD+) activity	IDA IDA: 通过直接分析推断	4015840	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	22516612	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32814053	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

ALDH4A1 蛋白结构

Aldedh

0
100
200
300
400
500
563 a.a.

蛋白主名

其他名称

delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial

L-glutamate gamma-semialdehyde dehydrogenase

ALDH4A1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	ALDH4A1	P30038	ALDH4A1	Homo sapiens	P30038	Cosedimentation	22516612
种属内	ALDH4A1	P30038	ALDH4A1	Homo sapiens	P30038	X-Ray Diffraction	22516612

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 ALDH4A1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P76138	ALDH4A1 Protein, Human (sf9)	P30038 (K25-Q563)	≥95%
HY-P76139	ALDH4A1 Protein, Human (sf9, His-GST)	P30038 (K25-Q563)	≥95%

关联疾病

疾病名称

别名

Hyperprolinemia, Type Ii

Hyperprolinemia Type 2	HYRPRO2
Hpii	1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency
Hyperprolinemia Type Ii	1 Alpha Pyrroline-5-Carboxylate Dehydrogenase Deficiency
Type 2 Hyperprolinemia	Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency
Hyperprolinemia 2

Hyperprolinemia

Proline Oxidase Deficiency	Hyperprolinemia Type 1
Proline Hydrogenase Deficiency	Prolinemia
Pyrroline Carboxylate Dehydrogenase Deficiency	Pyrroline-5-Carboxylate Dehydrogenase Deficiency
Proline Dehydrogenase Deficiency	Hyperprolinemia Type 2

Hyperprolinemia, Type I

Proline Oxidase Deficiency	Hyperprolinemia Type 1
HYRPRO1	Hpi
Hyperprolinemia Type I	Hyperprolinemia 1
Proline Dehydrogenase Deficiency

Gamma-Amino Butyric Acid Metabolism Disorder

Disorder Of Gamma-Aminobutyric Acid Metabolism	Disorder Of Gaba Metabolism
Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism

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

Succinic Semialdehyde Dehydrogenase Deficiency

4-Hydroxybutyric Aciduria	Ssadh Deficiency
Gamma-Hydroxybutyric Aciduria	Gaba Metabolic Defect
SSADHD	Ssadh
Succinate-Semialdehyde Dehydrogenase Deficiency	Gamma-Hydroxybutyricaciduria
4-Hydroxybutyricaciduria	Gamma-Hydroxybutyric Acidemia
Succinate Semialdehyde Dehydrogenase Deficiency

Sjogren-Larsson Syndrome

Sjögren-Larsson Syndrome	SLS
Faldh Deficiency	Fatty Aldehyde Dehydrogenase Deficiency
Fatty Acid Alcohol Oxidoreductase Deficiency	Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia
Sjogren Larsson Syndrome	Fatty Alcohol:Nad+ Oxidoreductase Deficiency
Sjogren-Larsson'S Syndrome	Fadh Deficiency
Fao Deficiency	Congenital Icthyosis Mental Retardation Spasticity Syndrome
Ichthyosis Oligophrenia Syndrome	Sjoegren-Larsson Syndrome

Epilepsy, Pyridoxine-Dependent

Pyridoxine-Dependent Epilepsy	PDE
Pyridoxine Dependency With Seizures	Vitamin B6-Dependent Seizures
EPD	Aasa Dehydrogenase Deficiency
Antiquitin Deficiency	Pyridoxine Dependency
Glutamate Decarboxylase Deficiency	Pyridoxine-Dependent Seizures
Deficiency Of Glutamate Decarboxylase

Phosphoserine Aminotransferase Deficiency

Psat Deficiency	PSATD
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Psat Deficiency, Infantile/Juvenile Form
Deficiency, Phosphoserine Aminotransferase

Hypophosphatasia, Infantile

Infantile Hypophosphatasia	HPPI
Hops	Phosphoethanolaminuria
Perinatal Lethal Hypophosphatasia	Perinatal Lethal Rathbun Disease
Perinatal Lethal Phosphoethanolaminuria	Infantile Rathbun Disease
Infantile Phosphoethanolaminuria	Hypophosphatasia, Perinatal Lethal

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors	Inborn Errors Of Amino Acid Metabolism
Disorder Of Amino Acid Metabolism	Amino Acid Metabolism Disorders

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS00577	ALDH4A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	ALDH4A1	MGD	MGI:2443883
Bos taurus	ALDH4A1	VGNC	VGNC:25815
Rattus norvegicus	ALDH4A1	RGD	RGD:1624206
Macaca mulatta	ALDH4A1	VGNC	VGNC:69787
Felis catus	ALDH4A1	VGNC	VGNC:80133
Others	ALDH4A1	NCBI

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沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

ALDH4A1 - aldehyde dehydrogenase 4 family member A1 Gene

关于 ALDH4A1

功能概要

ALDH4A1 基因产物(4)

ALDH4A1 蛋白结构

ALDH4A1 蛋白互作信息

重组 ALDH4A1 蛋白

关联疾病

直系同源

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ALDH4A1 - aldehyde dehydrogenase 4 family member A1 Gene

关于 ALDH4A1

功能概要

ALDH4A1 基因产物(4)

ALDH4A1 蛋白结构

ALDH4A1 蛋白互作信息

重组 ALDH4A1 蛋白

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z