FAHD1 - fumarylacetoacetate hydrolase domain containing 1 Gene

Homo sapiens

Also known as YISKL; C16orf36

Gene ID: 81889 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

FAA_hydrolase

0
100
200
224 a.a.

Protein Preferred Names

Protein Names

acylpyruvase FAHD1, mitochondrial

FAH domain-containing protein 1

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04673	FAHD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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