DISEASES

Disease-gene associations mined from literature

Literature associating CHM and choroideremia

CHM [ENSP00000350386]

Rab proteins geranylgeranyltransferase component A 1; Substrate-binding subunit of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B composed of RABGGTA and RABGGTB, and remains bound to it after the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Besides, a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B) can bind to and prenylate Rab proteins; this alternative pathway is proposed to be the predominant pathway for Rab protein geranylgeranylation.

Synonyms:  CHM,  B4DRL9,  P24386,  B4DRL9p,  hB4DRL9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM