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  2. ALDH1B1 - aldehyde dehydrogenase 1 family member B1 Gene

ALDH1B1 - aldehyde dehydrogenase 1 family member B1 Gene

中文名称:醛脱氢酶 1 家族成员 B1

种属: Homo sapiens

同用名: ALDH5; ALDHX

基因 ID: 219 | 基因类型: protein coding

关于 ALDH1B1

Cytogenetic location: 9p13.1 Genomic coordinates (GRCh38): 9:38,392,702-38,398,661 (from NCBI)

This gene has 2 transcripts (splice variants), 290 orthologues and 17 paralogues. Broad expression in liver (RPKM 58.4), kidney (RPKM 38.9) and 19 other tissues.

功能概要

该蛋白质属于醛脱氢酶蛋白质家族。醛脱氢酶是酒精代谢的主要氧化途径中的第二种酶。该基因在编码序列中不包含内含子。该基因座的变异可能会影响酒精相关问题的发展。[RefSeq 提供,2008 年 7 月]

This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second Enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008]

ALDH1B1 基因产物(1)

mRNA Protein Name
NM_000692.5 NP_000683.3 aldehyde dehydrogenase X, mitochondrial precursor

ALDH1B1 蛋白结构

Aldedh

Aldedh: Aldehyde dehydrogenase family (45 - 508)

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

aldehyde dehydrogenase X, mitochondrial

ALDH class 2

关联疾病

疾病名称 别名
Gamma-Amino Butyric Acid Metabolism Disorder

Disorder Of Gamma-Aminobutyric Acid Metabolism

Disorder Of Gaba Metabolism

Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism

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

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

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

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
Macaca mulatta ALDH1B1 VGNC VGNC:81354
Rattus norvegicus ALDH1B1 RGD RGD:1306737
Mus musculus ALDH1B1 MGD MGI:1919785
Felis catus ALDH1B1 VGNC VGNC:102898
Bos taurus ALDH1B1 VGNC VGNC:25810
Canis familiaris ALDH1B1 VGNC VGNC:51696