1. Gene
  2. ALDH3B2 - aldehyde dehydrogenase 3 family member B2 Gene

ALDH3B2 - aldehyde dehydrogenase 3 family member B2 Gene

中文名称:乙醛脱氢酶 3 家族成员 B2

种属: Homo sapiens

同用名: ALDH8

基因 ID: 222 | 基因类型: protein coding

关于 ALDH3B2

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:67,662,155-67,681,252 (from NCBI)

This gene has 12 transcripts (splice variants), 230 orthologues and 17 paralogues. Biased expression in skin (RPKM 44.3), esophagus (RPKM 44.2) and 3 other tissues.

功能概要

该基因编码醛脱氢酶家族的一个成员,该家族是一组同工酶,可能在酒精代谢和脂质过氧化产生的醛的解毒中发挥重要作用。这个特定家族成员的基因长度超过 10 kb。已经在来自表现出降低的生育力的患者的精子中观察到该基因座处改变的甲基化模式。[RefSeq 提供,2017 年 8 月]

This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. Altered methylation patterns at this locus have been observed in spermatozoa derived from patients exhibiting reduced fecundity. [provided by RefSeq, Aug 2017]

ALDH3B2 基因产物(5)

mRNA Protein Name
NM_001031615.3 NP_001026786.3 aldehyde dehydrogenase family 3 member B2 isoform a
NM_001354345.3 NP_001341274.2 aldehyde dehydrogenase family 3 member B2 isoform a
NM_001393400.1 NP_001380329.1 aldehyde dehydrogenase family 3 member B2 isoform a
NM_001393401.1 NP_001380330.1 aldehyde dehydrogenase family 3 member B2 isoform b
NM_001393402.2 NP_001380331.1 aldehyde dehydrogenase family 3 member B2 isoform a
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(P)+] activity EXP
EXP: 通过实验结果推断
25286108 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 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

ALDH3B2 蛋白结构

Aldedh

Aldedh: Aldehyde dehydrogenase family (18 - 345)

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

aldehyde dehydrogenase family 3 member B2

acetaldehyde dehydrogenase 8

ALDH3B2 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
ALDH3B2 P48448 ALDH3B1 Homo sapiens P43353 33961781
种属内
ALDH3B2 P48448 ALDH3B1 Homo sapiens P43353 28514442
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
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

Gamma-Amino Butyric Acid Metabolism Disorder

Disorder Of Gamma-Aminobutyric Acid Metabolism

Disorder Of Gaba Metabolism

Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism

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
Rattus norvegicus ALDH3B2 RGD RGD:1584166
Macaca mulatta ALDH3B2 VGNC VGNC:69790