CHM (NM_000390) - CHM Rab escort protein
Rab Proteins Geranylgeranyltransferase Component A 1 Isoform A
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Protein 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. 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
Usage summary
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PTM site
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Kinase, PTM site or protein
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