CHML (gene)

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Choroideremia-like (Rab escort protein 2)
Identifiers
Symbols CHML ; REP2
External IDs OMIM118825 MGI101913 HomoloGene31055 GeneCards: CHML Gene
RNA expression pattern
PBB GE CHML 206079 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1122 12663
Ensembl ENSG00000203668 ENSMUSG00000078185
UniProt P26374 Q9QZD5
RefSeq (mRNA) NM_001821 NM_021350
RefSeq (protein) NP_001812 NP_067325
Location (UCSC) Chr 1:
241.79 – 241.8 Mb
Chr 1:
175.69 – 175.69 Mb
PubMed search [1] [2]

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[edit]

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

References[edit]

  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. ^ a b "Entrez Gene: CHML choroideremia-like (Rab escort protein 2)". 
  3. ^ a b 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. ^ a b 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[edit]