2. Gene
  3. ALDH6A1 - aldehyde dehydrogenase 6 family member A1 Gene

ALDH6A1 - aldehyde dehydrogenase 6 family member A1 Gene

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

中文名称：醛脱氢酶 6 家族成员 A1

种属: Homo sapiens

同用名: MMSDH; MMSADHA

基因 ID: 4329 | 基因类型: protein coding

关于 ALDH6A1

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:74,056,847-74,084,453 (from NCBI)

This gene has 7 transcripts (splice variants), 264 orthologues, 17 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 142.3), liver (RPKM 67.8) and 11 other tissues.

功能概要

该基因编码醛脱氢酶蛋白家族的一个成员。编码的蛋白质是一种线粒体甲基丙二酸半醛脱氢酶，在缬氨酸和嘧啶分解代谢途径中发挥作用。该蛋白质催化丙二酸和甲基丙二酸半醛不可逆氧化脱羧为乙酰辅酶 A 和丙酰辅酶 A。甲基丙二酸半醛脱氢酶缺乏症的特征是尿有机酸中 β-丙氨酸、3-羟基丙酸以及 3-氨基和 3-羟基异丁酸的两种异构体升高。交替剪接导致多个转录本变体。[RefSeq 提供，2013 年 6 月]

This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

ALDH6A1 基因产物(3)

mRNA Protein Name
NM_001278593.2 NP_001265522.1 methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform 2 precursor
NM_001278594.2 NP_001265523.1 methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform 3
NM_005589.4 NP_005580.1 methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform 1 precursor
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 methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity IMP
IMP: 通过突变表型推断
23835272 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in thymine catabolic process IMP
IMP: 通过突变表型推断
23835272 GOA
involved in valine catabolic process IMP
IMP: 通过突变表型推断
23835272 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

ALDH6A1 蛋白结构

Aldedh

Aldedh: Aldehyde dehydrogenase family (48 - 512)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 535 a.a.
蛋白主名 其他名称

methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial

malonate-semialdehyde dehydrogenase (acetylating)

关联疾病

疾病名称 别名
Methylmalonate Semialdehyde Dehydrogenase Deficiency

MMSDHD

Mmsdh Deficiency

Developmental Delay Due To Methylmalonate Semialdehyde Dehydrogenase Deficiency

Developmental Delay Due To Aldh6a1 Deficiency

Developmental Delay Due To Mmsdh Deficiency
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
Hyperprolinemia, Type Ii

Hyperprolinemia Type 2

HYRPRO2

Hpii

1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency

Hyperprolinemia Type Ii

1 Alpha Pyrroline-5-Carboxylate Dehydrogenase Deficiency

Type 2 Hyperprolinemia

Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency

Hyperprolinemia 2
Mast Syndrome

SPG21

Spastic Paraplegia 21, Autosomal Recessive

Autosomal Recessive Spastic Paraplegia Type 21

Autosomal Recessive Spastic Paraplegia 21

Hereditary Spastic Paraplegia 21
Hypermethioninemia

Hepatic Methionine Adenosyltransferase Deficiency

Deficiency Of Methionine Adenosyltransferase

Glycine N-Methyltransferase Deficiency

Met

S-Adenosylhomocysteine Hydrolase Deficiency

Gnmt Deficiency

Mat Deficiency

Methionine Adenosyltransferase Deficiency

Methioninemia

Deficiency Of Acetyl-Coa Acetyltransferase
Methylmalonic Acidemia

Methylmalonic Aciduria

Mma

Acidemia, Methylmalonic

Isolated Methylmalonic Acidemia
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-RS00579 ALDH6A1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus ALDH6A1 VGNC VGNC:68294
Mus musculus ALDH6A1 MGD MGI:1915077
Macaca mulatta ALDH6A1 VGNC VGNC:69819
Rattus norvegicus ALDH6A1 RGD RGD:621556
Bos taurus ALDH6A1 VGNC VGNC:25817
Canis familiaris ALDH6A1 VGNC VGNC:37788
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