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ADHFE1 - alcohol dehydrogenase iron containing 1 Gene

Also Known as HOT; ADH8; HMFT2263

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 137872

About ADHFE1

Cytogenetic location: 8q13.1 Genomic coordinates (GRCh38): 8:66,432,504-66,468,907 (from NCBI)

This gene has 16 transcripts (splice variants) and 200 orthologues. Ubiquitous expression in heart (RPKM 16.3), fat (RPKM 15.2) and 25 other tissues.

Summary

The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]

ADHFE1 Products (1)

mRNA	Protein	Name
NM_144650.3	NP_653251.2	hydroxyacid-oxoacid transhydrogenase, mitochondrial

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables hydroxyacid-oxoacid transhydrogenase activity	EXP EXP: Inferred from Experiment	16435184	GOA
enables hydroxyacid-oxoacid transhydrogenase activity	IDA IDA: Inferred from direct assay	16435184	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in glutamate catabolic process via 2-hydroxyglutarate	IDA IDA: Inferred from direct assay	16435184	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ADHFE1 Protein Structure

Fe-ADH

0
100
200
300
400
467 a.a.

Protein Preferred Names	Protein Names
hydroxyacid-oxoacid transhydrogenase, mitochondrial	Fe-containing alcohol dehydrogenase 1

Related Diseases

Diseases	Alias
2-Hydroxyglutaric Aciduria	2-Hga 2-Hydroxyglutaric Acidemia 2-Hydroxyglutaricaciduria Combined D-2- And L-2-Hydroxyglutaric Aciduria
Flinders Island Spotted Fever	Fisf Thai Tick Typhus
D-2-Hydroxyglutaric Aciduria 1	D-2-Hydroxyglutaric Aciduria D2HGA1 D-2-Hga D-2-Hydroxyglutaric Acidemia D2ha D2hga Aciduria, D-2-Hydroxyglutaric, Type 1 Combined D-2- And L-2-Hydroxyglutaric Aciduria
Combined D-2- And L-2-Hydroxyglutaric Aciduria	D,L-2-Hydroxyglutaric Aciduria D2L2AD Combined D-2-Hydroxyglutaric Acidemia And L-2-Hydroxyglutaric Acidemia Combined D-2-Hydroxyglutaric Aciduria And L-2-Hydroxyglutaric Aciduria D,L-2-Hga D,L-2-Hydroxyglutaric Acidemia Combined D,L-2-Hydroxyglutaric Aciduria
Intracranial Chondrosarcoma
L-2-Hydroxyglutaric Aciduria	L-2-Hydroxyglutaric Acidemia L2HGA L-2-Hga Aciduria, L-2-Hydroxyglutaric Combined D-2- And L-2-Hydroxyglutaric Aciduria
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Asphyxiating Thoracic Dystrophy 1 Jeune Syndrome SRTD1 Atd1 Asphyxiating Thoracic Dystrophy Of The Newborn Jatd Jeune Asphyxiating Thoracic Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Atd Asphyxiating Thoracic Dystrophy Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune'S Syndrome Thoracic Pelvic Phalangeal Dystrophy Jeune Thoracic Dystrophy

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00375	ADHFE1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ADHFE1	RGD	RGD:1308863
Macaca mulatta	ADHFE1	VGNC	VGNC:83977
Canis familiaris	ADHFE1	VGNC	VGNC:37655
Bos taurus	ADHFE1	VGNC	VGNC:25674
Mus musculus	ADHFE1	MGD	MGI:1923437
Felis catus	ADHFE1	VGNC	VGNC:81638
Others	ADHFE1	NCBI