Aliases for CHML Gene
External Ids for CHML Gene
Previous GeneCards Identifiers for CHML Gene
The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II. [provided by RefSeq, Jul 2008]
GeneCards Summary for CHML Gene
CHML (CHM Like, Rab Escort Protein 2) is a Protein Coding gene. Diseases associated with CHML include Choroideremia and Usher Syndrome. Among its related pathways are RAB geranylgeranylation and RAB GEFs exchange GTP for GDP on RABs. GO annotations related to this gene include GTPase activator activity and Rab geranylgeranyltransferase activity. An important paralog of this gene is CHM.
UniProtKB/Swiss-Prot for CHML Gene
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.