1. Gene
  2. BDH1 - 3-hydroxybutyrate dehydrogenase 1 Gene

BDH1 - 3-hydroxybutyrate dehydrogenase 1 Gene

中文名称:3-羟基丁酸脱氢酶 1

种属: Homo sapiens

同用名: BDH; SDR9C1

基因 ID: 622 | 基因类型: protein coding

关于 BDH1

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:197,509,783-197,573,343 (from NCBI)

This gene has 18 transcripts (splice variants), 1 gene allele, 187 orthologues and 25 paralogues. Broad expression in liver (RPKM 11.8), colon (RPKM 4.8) and 19 other tissues.

功能概要

该基因编码短链脱氢酶/还原酶基因家族的成员。编码的蛋白质形成线粒体膜的需要同源四聚体脂质的酶,并且对磷脂酰胆碱具有特定要求以获得最佳酶活性。编码的蛋白质催化乙酰乙酸和 (R) -3-羟基丁酸的相互转化,这是脂肪酸分解代谢过程中产生的两种主要酮体。已经描述了编码相同蛋白质的可变剪接转录物变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring Enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

BDH1 基因产物(3)

mRNA Protein Name
NM_004051.5 NP_004042.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor
NM_203314.3 NP_976059.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor
NM_203315.3 NP_976060.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial 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 3-hydroxybutyrate dehydrogenase activity IDA
IDA: 通过直接分析推断
8679568 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

BDH1 蛋白结构

adh_short

adh_short: short chain dehydrogenase (56 - 225)

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

D-beta-hydroxybutyrate dehydrogenase, mitochondrial

(R)-3-hydroxybutyrate dehydrogenase

重组 BDH1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7658 BDH1 Protein, Human (His) Q02338 (M1-R343) ≥95%

关联疾病

疾病名称 别名
Chromosome 3q29 Duplication Syndrome

Chromosome 3q29 Microduplication Syndrome

Trisomy 3q29

Microduplication 3q29 Syndrome

3q29 Microduplication

3q29 Microduplication Syndrome

3q29 Interstitial Microduplication

Spinocerebellar Ataxia, Autosomal Recessive 15

Autosomal Recessive Spinocerebellar Ataxia 15

SCAR15

Salih Ataxia

Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency

Autosomal Recessive Spinocerebellar Ataxia Type 15

Spinocerebellar Ataxia, Autosomal Recessive, 15

Ataxia, Spinocerebellar, Autosomal Recessive, Type 15

Mitochondrial Pyruvate Carrier Deficiency

MPYCD

Alpha-Methylacetoacetic Aciduria

Beta-Ketothiolase Deficiency

3-Ketothiolase Deficiency

3-Oxothiolase Deficiency

Mitochondrial Acetoacetyl-Coa Thiolase Deficiency

Alpha-Methylacetoaceticaciduria

Mat Deficiency

T2 Deficiency

2-Methyl-3-Hydroxybutyricacidemia

Beta Ketothiolase Deficiency

Pseudo-Zellweger Syndrome

2-Methyl-3-Hydroxybutyric Acidemia

3-Ktd Deficiency

Peroxisomal Thiolase Deficiency

2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency

3-Alpha-Oxothiolase Deficiency

Methylacetoacetyl-Coenzyme A Thiolase Deficiency

Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated

Β-Ketothiolase Deficiency

Alpha Methylacetoacetic Aciduria

Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency

Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency

3KTD

Aciduria, Alpha-Methylacetoacetic

Deficiency Of Acetyl-Coa Acetyltransferase

Deficiency Of Acetyl-Coa Acyltransferase

Hepatic Methionine Adenosyltransferase Deficiency

Bifunctional Peroxisomal Enzyme Deficiency

Apical Myocardial Infarction
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 BDH1 VGNC VGNC:60096
Canis familiaris BDH1 VGNC VGNC:38422
Rattus norvegicus BDH1 RGD RGD:620131
Macaca mulatta BDH1 VGNC VGNC:70042
Mus musculus BDH1 MGD MGI:1919161
Bos taurus BDH1 VGNC VGNC:26457
Others BDH1 NCBI