Retinol Dehydrogenase 12

Alternative Names

  • RDH12
  • Retinol Dehydrogenase, All-Trans and 9-Cis
Back to search Result
OMIM Number

608830

NCBI Gene ID

145226

Uniprot ID

Q96NR8

Length

32,566 bases

No. of Exons

9

No. of isoforms

1

Protein Name

Retinol Dehydrogenase 12

Molecular Mass

35094 Da

Amino Acid Count

316

Genomic Location

chr14:67,701,885-67,734,450

Gene Map Locus
14q24.1

Description

The RDH12 gene encodes an enzyme belonging to a family of dual-specificity retinol dehydrogenases that metabolize both all-trans- and cis-retinols.  The RDH12 enzyme is most efficient as an NADPH-dependent retinal reductase with highest activity toward 9-cis and all-trans-retinol.  It also helps metabolize short chain aldehydes.  The oxido-reductive catalytic activity of the RDH12 enzyme plays an important role in the retinol metabolic process and hence is essential to photoreceptor cell maintenance.  Mutations affecting the enzyme activity of RDH12 can thus have pathological consequences.

Mutations in RDH12 are associated with Leber Congenital Amaurosis 13 (LCA13), a severe retinal dystrophy characterized by nystagmus, sluggish pupillary responses, roving eye movement, extreme hyperopia, convergent strabismus, photophobia or keratoconus.  

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_152443.3:c.139G>ASaudi ArabiaNC_000014.9:g.67724543G>ALikely Pathogenic, PathogenicRisk factorLeber Congenital Amaurosis 13NG_008321.1:g.27658G>A; NM_152443.3:c.139G>A; NP_689656.2:p.Ala47Thr761231974852972
NM_152443.3:c.226G>CSaudi ArabiaNC_000014.9:g.67725137G>CPathogenicPathogenicLeber Congenital Amaurosis 13NG_008321.1:g.28252G>C; NM_152443.3:c.226G>C; NP_689656.2:p.Gly76Arg3684896581074472
© CAGS 2024. All rights reserved.