Entrez Summary: The protein encoded by this gene is a member of the short-chain dehydrogenases/reductases (SDR) superfamily, and is thought to contain a nicotinamide adenine dinucleotide (NAD) binding domain. This large SDR family of enzymes is involved in the metabolism of a variety of compounds, including prostaglandins, retinoids, lipids, steroid hormones, and xenobiotics. Mutations in this gene have been associated with Catel-Manzke syndrome, which is characterized by Pierre Robin sequence, and radial deviation of the index finger due to the presence of an accessory bone between the index finger and its proximal phalanx. Pierre Robin sequence is defined by an undersized jaw, backwards displacement of the tongue base that causes an obstruction of the airways, and can also be associated with a cleft palate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
Epimerase
RmlD sub bind
Polysacc synt 2
NAD binding 4
3Beta HSD
GO Terms
dTDP-glucose 4,6-dehydratase activity
nucleotide-sugar metabolic process
nucleobase-containing small molecule metabolic process
carbohydrate derivative metabolic process
small molecule metabolic process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)