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CHM (NM_000390) - CHM Rab escort protein

Rab Proteins Geranylgeranyltransferase Component A 1 Isoform A

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of CHM protein. View all 2 isoforms
CHM: rab proteins geranylgeranyltransferase component A 1 isoform a
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].

Strand
-
Chromosome
X
Protein
653 residues
All mutations
107
PTM sites
10
CDS
85,119,634 - 85,302,536
Transcription
85,116,184 - 85,302,566
20.06% of sequence is predicted to be disordered

Usage summary

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 1121
UniProt
Ensembl