DHDDS Antibody – Mouse Polyclonal

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]

DHDDS: Catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier-lipid required for the biosynthesis of several classes of glycoprotein. Defects in DHDDS are the cause of retinitis pigmentosa type 59 (RP59). RP59 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Belongs to the UPP synthase family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Secondary Metabolites Metabolism - terpenoid backbone biosynthesis; Transferase; EC 2.5.1.87

Chromosomal Location of Human Ortholog: 1p36.11

Cellular Component: endoplasmic reticulum membrane

Molecular Function: transferase activity, transferring alkyl or aryl (other than methyl) groups; protein binding

Biological Process: cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; dolichyl diphosphate biosynthetic process; protein amino acid N-linked glycosylation via asparagine; post-translational protein modification

Disease: Retinitis Pigmentosa 59