2. Gene
  3. FAHD1 - fumarylacetoacetate hydrolase domain containing 1 Gene

FAHD1 - fumarylacetoacetate hydrolase domain containing 1 Gene

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

中文名称：含延胡索酰乙酰乙酸水解酶结构域， 1

种属: Homo sapiens

同用名: YISKL; C16orf36

基因 ID: 81889 | 基因类型: protein coding

关于 FAHD1

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:1,827,206-1,840,207 (from NCBI)

This gene has 3 transcripts (splice variants), 196 orthologues and 3 paralogues. Broad expression in kidney (RPKM 20.6), liver (RPKM 9.9) and 23 other tissues.

功能概要

启用乙酰丙酮酸水解酶活性；富马酰丙酮酸水解酶活性；和草酰乙酸脱羧酶活性。位于胞质溶胶中；线粒体；和核质。 [由基因组资源联盟提供，2022 年 4 月]

Enables acetylpyruvate hydrolase activity; fumarylpyruvate hydrolase activity; and oxaloacetate decarboxylase activity. Located in cytosol; mitochondrion; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

FAHD1 基因产物(3)

mRNA Protein Name
NM_001018104.3 NP_001018114.2 acylpyruvase FAHD1, mitochondrial isoform 1
NM_001142398.2 NP_001135870.2 acylpyruvase FAHD1, mitochondrial isoform 3
NM_031208.4 NP_112485.2 acylpyruvase FAHD1, mitochondrial isoform 2

FAHD1 蛋白结构

FAA_hydrolase

FAA_hydrolase: Fumarylacetoacetate (FAA) hydrolase family (19 - 219)

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

acylpyruvase FAHD1, mitochondrial

FAH domain-containing protein 1

关联疾病

疾病名称 别名
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism
Cerebral Lymphoma

Primary Cerebral Lymphoma

Brain Primary Lymphoma

Primary Lymphoma Of Cerebrum
Hyperoxaluria, Primary, Type Iii

Primary Hyperoxaluria Type 3

HP3

Ph Iii

Primary Hyperoxaluria Type Iii

Hyperoxaluria Primary 3

Hyperoxaluria Non-Hp1/Non-Hp2

Hyperoxaluria Non-Ph I/Ph Ii Form

Hyperoxaluria Primary Type Iii
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-RS04673 FAHD1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus FAHD1 VGNC VGNC:28708
Mus musculus FAHD1 MGD MGI:1915886
Macaca mulatta FAHD1 VGNC VGNC:99507
Felis catus FAHD1 VGNC VGNC:80571
Rattus norvegicus FAHD1 RGD RGD:1304560
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