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  2. AKR7A2 - aldo-keto reductase family 7 member A2 Gene

AKR7A2 - aldo-keto reductase family 7 member A2 Gene

Homo sapiens

Also known as AFAR; AKR7; AFAR1; AFB1-AR1

Gene ID: 8574 | Gene type: protein coding

About AKR7A2

Cytogenetic location: 1p36.13 Genomic coordinates (GRCh38): 1:19,302,708-19,312,146 (from NCBI)

This gene has 5 transcripts (splice variants), 249 orthologues and 16 paralogues. Ubiquitous expression in kidney (RPKM 26.6), duodenum (RPKM 20.0) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication Enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

AKR7A2 Products(2)

mRNA Protein Name
NM_001320979.1 NP_001307908.1 aflatoxin B1 aldehyde reductase member 2 isoform 2
NM_003689.4 NP_003680.2 aflatoxin B1 aldehyde reductase member 2 isoform 1

AKR7A2 Protein Structure

Aldo_ket_red

Aldo_ket_red: Aldo/keto reductase family (41 - 346)

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  • 359 a.a.
Protein Preferred Names Protein Names

aflatoxin B1 aldehyde reductase member 2

AFB1 aldehyde reductase 1

Related Diseases

Diseases Alias
Gamma-Amino Butyric Acid Metabolism Disorder

Disorder Of Gamma-Aminobutyric Acid Metabolism

Disorder Of Gaba Metabolism

Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism

Succinic Semialdehyde Dehydrogenase Deficiency

4-Hydroxybutyric Aciduria

Ssadh Deficiency

Gamma-Hydroxybutyric Aciduria

Gaba Metabolic Defect

SSADHD

Ssadh

Succinate-Semialdehyde Dehydrogenase Deficiency

Gamma-Hydroxybutyricaciduria

4-Hydroxybutyricaciduria

Gamma-Hydroxybutyric Acidemia

Succinate Semialdehyde Dehydrogenase Deficiency

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus AKR7A2 RGD RGD:620311
Mus musculus AKR7A2 MGD MGI:107796