DISEASES

Disease-gene associations mined from literature

Literature associating CHML and dehydrated hereditary stomatocytosis 1

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,  A0A1B0GUK6,  A0A1B0GVA4,  A0A1B0GVX9,  P26374 ...

Linkouts:  STRING  Pharos  UniProt  OMIM