CHML (gene)

Jump to: navigation, search
VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Rab proteins geranylgeranyltransferase component A 2 is an enzyme that in humans is encoded by the CHML gene.[1][2]

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.[2]

Interactions

CHML (gene) has been shown to interact with RAB1A[3][4] and RAB5A.[3][4]

References

  1. van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FP (January 1995). "Cloning and characterization of the human choroideremia gene". Hum Mol Genet. 3 (7): 1041–6. doi:10.1093/hmg/3.7.1041. PMID 7981670.
  2. 2.0 2.1 "Entrez Gene: CHML choroideremia-like (Rab escort protein 2)".
  3. 3.0 3.1 Anant, J S; Desnoyers L; Machius M; Demeler B; Hansen J C; Westover K D; Deisenhofer J; Seabra M C (September 1998). "Mechanism of Rab geranylgeranylation: formation of the catalytic ternary complex". Biochemistry. UNITED STATES. 37 (36): 12559–68. doi:10.1021/bi980881a. ISSN 0006-2960. PMID 9730828.
  4. 4.0 4.1 Cremers, F P; Armstrong S A; Seabra M C; Brown M S; Goldstein J L (January 1994). "REP-2, a Rab escort protein encoded by the choroideremia-like gene". J. Biol. Chem. UNITED STATES. 269 (3): 2111–7. ISSN 0021-9258. PMID 8294464.

Further reading

External links



Linked-in.jpg