DHRS3

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Description

The DHRS3 (dehydrogenase/reductase 3) is a protein-coding gene located on chromosome 1.

Short-chain dehydrogenase/reductase 3 is an enzyme produced by the DHRS3 gene in humans.

This enzyme facilitates the conversion of all-trans-retinal to all-trans-retinol using NADPH as a cofactor.

DHRS3 is also known as CNALPTC1, DD83.1, RDH17, Rsdr1, SDR1, SDR16C1, retSDR1.

Associated Diseases

• craniosynostosis
• heart defects-limb shortening syndrome
• fetal trimethadione syndrome
• autosomal recessive omodysplasia
• mosaic trisomy 20
• German syndrome
• Catel-Manzke syndrome
• contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
• X-linked lethal multiple pterygium syndrome