1. Gene
  2. RDH13 - retinol dehydrogenase 13 Gene

RDH13 - retinol dehydrogenase 13 Gene

Homo sapiens

Also known as SDR7C3

Gene ID: 112724 | Gene type: protein coding

About RDH13

This gene has 23 transcripts (splice variants), 1 gene allele, 174 orthologues and 4 paralogues. Ubiquitous expression in skin (RPKM 5.7), stomach (RPKM 4.2) and 25 other tissues.

Summary

This gene encodes a mitochondrial short-chain dehydrogenase/reductase, which catalyzes the reduction and oxidation of retinoids. The encoded Enzyme may function in retinoic acid production and may also protect the mitochondria against oxidative stress. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

RDH13 Products(2)

mRNA Protein Name
NM_001145971.2 NP_001139443.1 retinol dehydrogenase 13 isoform 1 precursor
NM_138412.4 NP_612421.1 retinol dehydrogenase 13 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables all-trans-retinol dehydrogenase (NADP+) activity IDA
IDA: Inferred from direct assay
18039331 GOA
Biological Process GO Annotation Evidence Reference Source
involved in retinal metabolic process IDA
IDA: Inferred from direct assay
18039331 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
18039331 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

RDH13 Protein Structure

adh_short

adh_short: short chain dehydrogenase (39 - 180)

  • 0
  • 100
  • 200
  • 300
  • 331 a.a.
Protein Preferred Names Protein Names

retinol dehydrogenase 13

retinol dehydrogenase 13 (all-trans and 9-cis)

Related Diseases

Diseases Alias
Noonan Syndrome 10

NS10

Noonan Syndrome, Type 10

Fundus Albipunctatus

Retinitis Punctata Albescens

Pigmentary Retinal Dystrophy

RPA

Albipunctate Retinal Dystrophy

Lauber'S Disease

FALBI

Fa

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Canis familiaris RDH13 VGNC VGNC:45453
Bos taurus RDH13 VGNC VGNC:33842
Felis catus RDH13 VGNC VGNC:97601
Mus musculus RDH13 MGD MGI:1918732
Rattus norvegicus RDH13 RGD RGD:1304959