1. Gene
  2. ALDH1L2 - aldehyde dehydrogenase 1 family member L2 Gene

ALDH1L2 - aldehyde dehydrogenase 1 family member L2 Gene

中文名称:醛脱氢酶 1 家族成员 L2

种属: Homo sapiens

同用名: mtFDH

基因 ID: 160428 | 基因类型: protein coding

关于 ALDH1L2

Cytogenetic location: 12q23.3 Genomic coordinates (GRCh38): 12:105,019,790-105,084,458 (from NCBI)

This gene has 7 transcripts (splice variants), 211 orthologues and 17 paralogues. Ubiquitous expression in pancreas (RPKM 5.6), salivary gland (RPKM 2.9) and 22 other tissues.

功能概要

该基因编码醛脱氢酶超家族和甲酰基转移酶超家族的成员。该成员是 10-甲酰四氢叶酸脱氢酶 (FDH) 的线粒体形式,它在 NADP (+) 依赖性反应中将 10-甲酰四氢叶酸转化为四氢叶酸和 CO2,并且在细胞溶质之间的单碳基团分布中起重要作用和细胞的线粒体区室。已发现该基因的可变剪接转录本变体。[RefSeq 提供,2010 年 10 月]

This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]

ALDH1L2 基因产物(1)

mRNA Protein Name
NM_001034173.4 NP_001029345.2 mitochondrial 10-formyltetrahydrofolate dehydrogenase 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 formyltetrahydrofolate dehydrogenase activity IDA
IDA: 通过直接分析推断
21238436 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in 10-formyltetrahydrofolate catabolic process IDA
IDA: 通过直接分析推断
21238436 GOA
involved in NADPH regeneration IDA
IDA: 通过直接分析推断
21238436 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
20498374 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
蛋白主名 其他名称

mitochondrial 10-formyltetrahydrofolate dehydrogenase

10-formyltetrahydrofolate dehydrogenase ALDH1L2

关联疾病

疾病名称 别名
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

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

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 ALDH1L2 VGNC VGNC:83487
Mus musculus ALDH1L2 MGD MGI:2444680
Canis familiaris ALDH1L2 VGNC VGNC:37785
Macaca mulatta ALDH1L2 VGNC VGNC:81356
Bos taurus ALDH1L2 VGNC VGNC:25812
Rattus norvegicus ALDH1L2 RGD RGD:1309458