Target intelligence / Profile preview

Retinol dehydrogenase 14 (RDH14)

Target
RDH14
Molecular classification
Enzyme, Short chain dehydrogenase/reductase (SDR) family, Oxidoreductase
01

Overview

Retinol dehydrogenase 14 (RDH14) is a protein-coding enzyme belonging to the short chain dehydrogenase/reductase (SDR) family. It is most active in the oxidation of retinol isomers, especially 9-cis, 11-cis, and all-trans-retinol, using NADP as a cofactor. It shows negligible activity against steroid substrates[5]. RDH14 is expressed throughout human tissues and is found in the cytosol, endoplasmic reticulum, and nucleoplasm[1][7]. The enzyme contributes to the retinoic acid signaling pathway and is implicated in visual cycle function and bone cell differentiation. Mutations in RDH14 have been associated with retinal degenerative diseases, such as Leber congenital amaurosis 13 and Bothnia retinal dystrophy[1]. No interacting drugs, biomarkers, or therapeutic safety concerns have been well-characterized in the literature to date.

Other names
RDH14PAN2SDR7C4Alcohol dehydrogenase PAN2Short chain dehydrogenase/reductase family 7C member 4pancreas protein 2retinol dehydrogenase 14 (all-trans/9-cis/11-cis)retinol dehydrogenase 14 (all-trans and 9-cis)
02

Biological functions

Retinol metabolismAll-trans-retinol dehydrogenase (NADP+) activity9-cis, 11-cis retinol oxidationOsteoblast differentiation
03

Disease associations

Leber congenital amaurosis 13Bothnia retinal dystrophyRetinal degenerative diseases

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