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Gene: CHM (CHM Rab escort protein) Homo sapiens
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Symbol: CHM
Name: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CHM, Rab escort protein 1; choroideraemia protein; choroideremia (Rab escort protein 1); choroideremia protein; DXS540; FLJ38564; GGTA; HSD-32; MGC102710; rab escort protein 1; Rab geranylgeranyltransferase component A; rab proteins geranylgeranyltransferase component A 1; REP-1; TCD
Orthologs:
Mus musculus (house mouse) : Chm (choroidermia (RAB escort protein 1))  MGI  Alliance
Rattus norvegicus (Norway rat) : Chm (CHM Rab escort protein)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Chm (CHM Rab escort protein)
Pan paniscus (bonobo/pygmy chimpanzee) : CHM (CHM Rab escort protein)
Canis lupus familiaris (dog) : CHM (CHM, Rab escort protein 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Chm (CHM Rab escort protein)
Sus scrofa (pig) : CHM (CHM Rab escort protein)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X85,861,180 - 86,047,565 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X85,116,185 - 85,302,566 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X85,002,841 - 85,189,222 (-)NCBINCBI36hg18NCBI36
Build 34X84,925,656 - 85,108,711NCBI
CeleraX85,355,767 - 85,542,165 (-)NCBI
Cytogenetic MapXq21.2NCBI
HuRefX78,692,493 - 78,878,455 (-)NCBIHuRef
CHM1_1X85,009,817 - 85,196,134 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on CHM
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 732475
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.