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Gene : CHM Homo sapiens

Name  ? CHM Rab escort protein Cytological Location  Xq21.2
Brief Description  CHM Rab escort protein
Description  This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
  • synonyms:
  • NM_000390,
  • CHM,
  • REP-1,
  • DXS540,
  • OTTHUMG00000021937,
  • TCD,
  • HGNC:1940,
  • HSD-32,
  • TCD,
  • uc004eet.3,
  • CHM, Rab escort protein 1,
  • REP-1,
  • DXS540,
  • GGTA,
  • Rab escort protein 1,
  • choroideremia (Rab escort protein 1),
  • X78121
  • identifiers:
  • 1121,
  • ENSG00000188419,
  • CHM

Genome feature

Region: gene ? Length: 186379  
Location: X:85861180-86047558 reverse strand Cyto location: Xq21.2


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Disease

1 Diseases

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3753 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results