DHDDS

The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

Description

dehydrodolichyl diphosphate synthase subunit

Protein family

Disease related genes, Enzymes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Potential drug targets, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

1:p36.11 (26432282 - 26471306)

Ensembl ID

ENSG00000117682  (ver. 98.38)

Orthologs

Mouse Dhdds: ENSMUSG00000012117

UniProt

Q86SQ9

neXtProt

NX_Q86SQ9

Human splice variants
Mouse splice variants