ADHFE1 - alcohol dehydrogenase iron containing 1 Gene

Homo sapiens

Also known as HOT; ADH8; HMFT2263

Gene ID: 137872 | Gene type: protein coding

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

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

Bioactive Molecules (1)

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

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