1. Gene
  2. DHCR24 - 24-dehydrocholesterol reductase Gene

DHCR24 - 24-dehydrocholesterol reductase Gene

中文名称:24-脱氢胆固醇还原酶

种属: Homo sapiens

同用名: DCE; SELADIN1; Nbla03646; seladin-1

基因 ID: 1718 | 基因类型: protein coding

关于 DHCR24

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:54,849,627-54,887,195 (from NCBI)

This gene has 12 transcripts (splice variants), 209 orthologues and is associated with 3 phenotypes. Biased expression in adrenal (RPKM 515.3), liver (RPKM 200.4) and 12 other tissues.

功能概要

该基因编码黄素腺嘌呤二核苷酸 (FAD) 依赖性氧化还原酶,该酶在胆固醇生物合成过程中催化甾醇中间体 delta-24 双键的还原。该蛋白质包含引导其进入内质网膜的前导序列。该基因的错义突变与去甾醇病有关。此外,该基因的表达减少发生在阿尔茨海默病患者的颞叶皮质中,并且已经在肾上腺癌细胞中观察到过度表达。[RefSeq 提供,2008 年 7 月]

This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during Cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland Cancer cells. [provided by RefSeq, Jul 2008]

DHCR24 基因产物(1)

mRNA Protein Name
NM_014762.4 NP_055577.1 delta(24)-sterol reductase precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables delta24(24-1) sterol reductase activity IMP
IMP: 通过突变表型推断
11519011 GOA
enables delta24-sterol reductase activity EXP
EXP: 通过实验结果推断
11519011 GOA
enables enzyme binding IPI
IPI: 通过物理相互作用推断
15577914 GOA
enables oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IDA
IDA: 通过直接分析推断
11519011 GOA
enables peptide antigen binding IPI
IPI: 通过物理相互作用推断
15577914 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25637936 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within cholesterol biosynthetic process IMP
IMP: 通过突变表型推断
11519011 GOA
involved in cholesterol biosynthetic process via desmosterol IMP
IMP: 通过突变表型推断
11519011 GOA
involved in tissue development IMP
IMP: 通过突变表型推断
12457401 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
11007892 GOA
located in nucleus IDA
IDA: 通过直接分析推断
15577914 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

DHCR24 蛋白结构

FAD_binding_4

FAD_binding_4: FAD binding domain (111 - 203)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 516 a.a.
蛋白主名 其他名称

delta(24)-sterol reductase

3 beta-hydroxysterol delta 24-reductase

DHCR24 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
DHCR24 Q15392 PGRMC1 Homo sapiens O00264
Crosslink
30021884
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Desmosterolosis

Deficiency Of 3beta-Hydroxysterol Delta24-Reductase

DESMOS

Hydrops Fetalis, Nonimmune

Hydrops Fetalis

Non-Immune Hydrops Fetalis

NIHF

Familial Non-Immune Hydrops Fetalis

Hydrops Fetalis Nonimmune

Idiopathic Hydrops Fetalis

Hb Bart'S Hydrops Fetalis

Alpha-Thalassemia Hydrops Fetalis

Alpha-Thalassemia Major

Hemoglobin Bart'S Hydrops Fetalis

Homozygous Alpha0-Thalassemia

Fetal Anasarca

Fetal Hydrops

Generalized Fetal Edema

Hf

Non-Immune Hf

Non-Immune Fetal Edema

Non-Immune Fetal Hydrops

Hydrops Fetalis, Non-Immune

Hemoglobin Bart'S Hydrops Syndrome

Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects

Child Syndrome

Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs

Child Nevus

Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects

Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects

Ichthyosis, Child Syndrome

Child Syndrome Ichthyosis

CHILD

Rh Isoimmunization

Rh Incompatibility Affecting Management Of Mother

X-Linked Chondrodysplasia Punctata 2

Happle Syndrome

Cdpx2

Conradi-Hünermann Syndrome

Chondrodysplasia Punctata 2, X-Linked

X-Linked Dominant Chondrodysplasia Punctata

Conradi-Hunermann Syndrome

Conradi-Hünermann-Happle Syndrome

Cdpxd

Cpxd

Chondrodystrophia Calcificans Congenita

Conradi-Hunermann-Happle Syndrome

X-Linked Chondrodysplasia Punctata Type 2

Chondrodysplasia Punctata, X-Linked Dominant Type

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness

Bsnd

Sensorineural Deafness With Mild Renal Dysfunction

Bartter Disease Type 4a

BARTS4A

Bartter Syndrome, Type 4a

Bartter Syndrome Type 4

Bartter Syndrome, Neonatal, With Sensorineural Deafness

Bartter Syndrome With Sensorineural Deafness

Bartter Syndrome Type 4a

Neonatal Bartter Syndrome With Sensorineural Deafness

Bartter Syndrome Type Iv

Bartter Syndrome With Sensorineural Hearing Loss

Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness

Hyperprostanglandin E Syndrome 4

Hypokalemic Alkalosis With Hypercalciuria Antenatal 4

Infantile Bartter Syndrome With Sensorineural Deafness

Lethal Restrictive Dermopathy

Hyperkeratosis-Contracture Syndrome

Tight Skin Contracture Syndrome

Tight Skin Contracture Syndrome, Lethal

Dermopathy, Restrictive, Lethal

Smith-Lemli-Opitz Syndrome

SLOS

Rsh Syndrome

7-Dehydrocholesterol Reductase Deficiency

Slo Syndrome

Rutledge Lethal Multiple Congenital Anomaly Syndrome

Lethal Acrodysgenital Syndrome

Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung

Smith-Opitz-Inborn Syndrome

Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung

Smith Lemli Opitz Syndrome

Smith-Lemli-Opitz Syndrome, Type Ii

Blood Group Incompatibility
Developmental And Epileptic Encephalopathy 1

Epileptic Encephalopathy, Early Infantile, 1

Infantile Epileptic-Dyskinetic Encephalopathy

DEE1

Eiee1

Issx1

Xmesid

X-Linked Infantile Spasm Syndrome 1

X-Linked Infantile Spasm Syndrome

X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

Developmental And Epileptic Encephalopathy, 1

Infantile Epileptic Dyskinetic Encephalopathy

Infantile Spasm Syndrome, X-Linked 1

West Syndrome, X-Linked

Ohtahara Syndrome, X-Linked

Early Infantile Epileptic Encephalopathy 1

Early Infantile Epileptic Encephalopathy-1

Issx

X-Linked Ohtahara Syndrome

X-Linked West Syndrome

Infantile Spasm Syndrome X-Linked 1

Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity

Ohtahara Syndrome X-Linked

West Syndrome X-Linked

Encephalopathy, Epileptic, Early Infantile, Type 1

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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
Felis catus DHCR24 VGNC VGNC:61466
Bos taurus DHCR24 VGNC VGNC:28033
Mus musculus DHCR24 MGD MGI:1922004
Macaca mulatta DHCR24 VGNC VGNC:71791
Rattus norvegicus DHCR24 RGD RGD:1306529
Canis familiaris DHCR24 VGNC VGNC:39926