2. Gene
  3. PDHA2 - pyruvate dehydrogenase E1 subunit alpha 2 Gene

PDHA2 - pyruvate dehydrogenase E1 subunit alpha 2 Gene

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

中文名称：丙酮酸脱氢酶 E1 亚基 alpha 2

种属: Homo sapiens

同用名: PDHAL; SPGF70

基因 ID: 5161 | 基因类型: protein coding

关于 PDHA2

Cytogenetic location: 4q22.3 Genomic coordinates (GRCh38): 4:95,840,093-95,841,464 (from NCBI)

This gene has 1 transcript (splice variant), 260 orthologues, 2 paralogues and is associated with 1 phenotype.

功能概要

启用丙酮酸脱氢酶 (乙酰基转移) 活性。参与丙酮酸代谢过程。位于线粒体和核仁中。 [由基因组资源联盟提供，2022 年 4 月]

Enables pyruvate dehydrogenase (acetyl-transferring) activity. Involved in pyruvate metabolic process. Located in mitochondrion and nucleolus. [provided by Alliance of Genome Resources, Apr 2022]

PDHA2 基因产物(1)

mRNA Protein Name
NM_005390.5 NP_005381.1 pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial 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 protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables pyruvate dehydrogenase (NAD+) activity IDA
IDA: 通过直接分析推断
16436377 GOA
enables pyruvate dehydrogenase (acetyl-transferring) activity IDA
IDA: 通过直接分析推断
16436377 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in pyruvate metabolic process IDA
IDA: 通过直接分析推断
16436377 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

PDHA2 蛋白结构

E1_dh

E1_dh: Dehydrogenase E1 component (65 - 359)

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

pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial

PDHE1-A type II

PDHA2 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
PDHA2 P29803 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
种属内
PDHA2 P29803 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
种属内
PDHA2 P29803 MEOX2 Homo sapiens Q6FHY5
Validated Y2H
32296183
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
Spermatogenic Failure 70

SPGF70
Spermatogenic Failure 1

Oligosynaptic Infertility

SPGF1

Oligochiasmatic Infertility

Oligochiasmic Infertility
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism
Chorea Gravidarum
Pyruvate Dehydrogenase E1-Alpha Deficiency

Pyruvate Dehydrogenase Deficiency

Pyruvate Dehydrogenase Complex Deficiency

Pyruvate Decarboxylase Deficiency

Pdh Deficiency

PDHAD

Pyruvate Dehydrogenase Complex Deficiency Disease

Ataxia With Lactic Acidosis I

Ataxia With Lactic Acidosis 1

Pdh

Pdhc

Ataxia With Lactic Acidosis

Ataxia, Intermittent, With Abnormal Pyruvate Metabolism

Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency

Deficiency Of Pyruvic Dehydrogenase

Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency

Pdc Deficiency

Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency

Pdhc Deficiency

Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency

Ataxia Intermittent With Abnormal Pyruvate Metabolism

Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency

Pyruvate Dehydrogenase E1 Alpha Deficiency

Pdc - [Pyruvate Dehydrogenase Complex] Deficiency

Ataxia With Lactic Acidosis 2
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-RS10262 PDHA2 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 PDHA2 RGD RGD:620095
Macaca mulatta PDHA2 VGNC VGNC:100260
Bos taurus PDHA2 VGNC VGNC:107249
Felis catus PDHA2 VGNC VGNC:78546
Mus musculus PDHA2 MGD MGI:97533
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