DISEASES

Disease-gene associations mined from literature

Literature associating DHDDS and anosognosia

DHDDS [ENSP00000353104]

Dehydrodolichyl diphosphate synthase complex subunit DHDDS; With DHDDS, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Adds multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER). Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol.

Synonyms:  DHDDS,  E9PI09,  E9PI64,  E9PKJ5,  E9PL99 ...

Linkouts:  STRING  Pharos  UniProt  OMIM