CHM

GENE INFORMATION

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Gene name

CHM (HGNC Symbol)

Synonyms

DXS540, REP-1, TCD

Description

Choroideremia (Rab escort protein 1) (HGNC Symbol)

Entrez gene summary

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. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]

Chromosome

X

Cytoband

q21.2

Chromosome location (bp)

85116185 - 85302566

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000188419 (version 75.37)

Entrez gene

1121

UniProt

P24386 (UniProt - Evidence at protein level)

neXtProt

NX_P24386

Antibodypedia

CHM antibodies
 

PROTEIN VIEW

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CHM-001
 
CHM-002
 
CHM-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CHM-001 ENSP00000350386
ENST00000357749
P24386
Show all »
Show » Show » 653 73.5 No 0
CHM-002 ENSP00000362228
ENST00000358786
P24386
Show all »
Show » Show » 110 12.3 No 0
CHM-201 ENSP00000441728
ENST00000537751
B4DRL9
Show all »
Show » Show » 505 57.3 No 0