CHML (gene)

CHML
Identifiers
Aliases	CHML, REP2, choroideremia-like (Rab escort protein 2), CHM like, Rab escort protein 2, CHM like Rab escort protein
External IDs	OMIM: 118825 MGI: 101913 HomoloGene: 31055 GeneCards: CHML
Gene location (Human)
Chr.	Chromosome 1 (human)
End	241,640,369 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	175,520,467 bp
RNA expression pattern
	Top expressed in
	sperm; ; ganglionic eminence; ; Brodmann area 23; ; postcentral gyrus; ; visceral pleura; ; superior frontal gyrus; ; placenta; ; spongy bone; ; endometrium; ; tibia;
	Top expressed in
	superior cervical ganglion; ; hand; ; supraoptic nucleus; ; atrium; ; substantia nigra; ; lateral geniculate nucleus; ; trigeminal ganglion; ; cumulus cell; ; utricle; ; facial motor nucleus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	GTPase activator activity; GDP-dissociation inhibitor activity;
Cellular component	nucleoplasm; Rab-protein geranylgeranyltransferase complex; cytoplasm; cytosol; nucleus;
Biological process	positive regulation of GTPase activity; intracellular protein transport; protein geranylgeranylation; regulation of catalytic activity; small GTPase mediated signal transduction; post-translational protein modification; vesicle-mediated transport;
	Sources:Amigo / QuickGO
Orthologs
	1122
	12663
	ENSG00000203668
	ENSMUSG00000078185
	P26374
	Q9QZD5
	NM_001821; NM_001381853; NM_001381854
	NM_021350
	NP_001812; NP_001368782; NP_001368783
	NP_067325
	Wikidata
View/Edit Human	View/Edit Mouse

Rab proteins geranylgeranyltransferase component A 2 is an enzyme that in humans is encoded by the CHML gene.

The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II.

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