2. Gene
  3. ADHFE1 - alcohol dehydrogenase iron containing 1 Gene

ADHFE1 - alcohol dehydrogenase iron containing 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含铁的醇脱氢酶 1

种属: Homo sapiens

同用名: HOT; ADH8; HMFT2263

基因 ID: 137872 | 基因类型: protein coding

关于 ADHFE1

Cytogenetic location: 8q13.1 Genomic coordinates (GRCh38): 8:66,432,504-66,468,907 (from NCBI)

This gene has 16 transcripts (splice variants) and 200 orthologues. Ubiquitous expression in heart (RPKM 16.3), fat (RPKM 15.2) and 25 other tissues.

功能概要

ADHFE1 基因编码羟基酸-含氧酸转氢酶 (EC 1.1.99.24) ，它负责哺乳动物组织中 4-羟基丁酸的氧化 (Kardon 等人，2006 年 [PubMed 16616524]) 。[OMIM 提供，2008 年 3 月]

The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]

ADHFE1 基因产物(1)

mRNA Protein Name
NM_144650.3 NP_653251.2 hydroxyacid-oxoacid transhydrogenase, mitochondrial
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 hydroxyacid-oxoacid transhydrogenase activity EXP
EXP: 通过实验结果推断
16435184 GOA
enables hydroxyacid-oxoacid transhydrogenase activity IDA
IDA: 通过直接分析推断
16435184 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in glutamate catabolic process via 2-hydroxyglutarate IDA
IDA: 通过直接分析推断
16435184 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

ADHFE1 蛋白结构

Fe-ADH

Fe-ADH: Iron-containing alcohol dehydrogenase (53 - 456)

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

hydroxyacid-oxoacid transhydrogenase, mitochondrial

Fe-containing alcohol dehydrogenase 1

关联疾病

疾病名称 别名
2-Hydroxyglutaric Aciduria

2-Hga

2-Hydroxyglutaric Acidemia

2-Hydroxyglutaricaciduria

Combined D-2- And L-2-Hydroxyglutaric Aciduria
Flinders Island Spotted Fever

Fisf

Thai Tick Typhus
D-2-Hydroxyglutaric Aciduria 1

D-2-Hydroxyglutaric Aciduria

D2HGA1

D-2-Hga

D-2-Hydroxyglutaric Acidemia

D2ha

D2hga

Aciduria, D-2-Hydroxyglutaric, Type 1

Combined D-2- And L-2-Hydroxyglutaric Aciduria
Combined D-2- And L-2-Hydroxyglutaric Aciduria

D,L-2-Hydroxyglutaric Aciduria

D2L2AD

Combined D-2-Hydroxyglutaric Acidemia And L-2-Hydroxyglutaric Acidemia

Combined D-2-Hydroxyglutaric Aciduria And L-2-Hydroxyglutaric Aciduria

D,L-2-Hga

D,L-2-Hydroxyglutaric Acidemia

Combined D,L-2-Hydroxyglutaric Aciduria
Intracranial Chondrosarcoma
L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Acidemia

L2HGA

L-2-Hga

Aciduria, L-2-Hydroxyglutaric

Combined D-2- And L-2-Hydroxyglutaric Aciduria
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 1

Jeune Syndrome

SRTD1

Atd1

Asphyxiating Thoracic Dystrophy Of The Newborn

Jatd

Jeune Asphyxiating Thoracic Dystrophy

Thoracic-Pelvic-Phalangeal Dystrophy

Atd

Asphyxiating Thoracic Dystrophy

Chondroectodermal Dysplasia-Like Syndrome

Infantile Thoracic Dystrophy

Jeune'S Syndrome

Thoracic Pelvic Phalangeal Dystrophy

Jeune Thoracic Dystrophy
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00375 ADHFE1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus ADHFE1 RGD RGD:1308863
Macaca mulatta ADHFE1 VGNC VGNC:83977
Canis familiaris ADHFE1 VGNC VGNC:37655
Bos taurus ADHFE1 VGNC VGNC:25674
Mus musculus ADHFE1 MGD MGI:1923437
Felis catus ADHFE1 VGNC VGNC:81638
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