Disease-gene associations mined from literature

Literature associating CHML and choroideremia

CHML [ENSP00000355511]

Rab proteins geranylgeranyltransferase component A 2; Substrate-binding subunit (component A) of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Less effective than CHM in supporting prenylation of Rab3 family.

Synonyms:  CHML,  P26374,  P26374p,  hP26374,  REP2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM