Gene Symbol | DHDDS |
Entrez Gene ID | 79947 |
Full Name | dehydrodolichyl diphosphate synthase subunit |
Synonyms | CIT,CPT,DS,HDS,RP59 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Retinitis pigmentosa 59, 613861 (3) |