CHML - CHM like Rab escort protein Gene

Homo sapiens

Also known as REP2

Gene ID: 1122 | Gene type: protein coding

About CHML

Cytogenetic location: 1q43 Genomic coordinates (GRCh38): 1:241,628,851-241,640,369 (from NCBI)

This gene has 5 transcripts (splice variants), 155 orthologues and 3 paralogues.

Summary

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. [provided by RefSeq, Jul 2008]

CHML Products(3)

mRNA	Protein	Name
NM_001381853.1	NP_001368782.1	rab proteins geranylgeranyltransferase component A 2
NM_001381854.1	NP_001368783.1	rab proteins geranylgeranyltransferase component A 2
NM_001821.4	NP_001812.2	rab proteins geranylgeranyltransferase component A 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables small GTPase binding	IDA IDA: Inferred from direct assay	15186776	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	15186776	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in protein geranylgeranylation	IDA IDA: Inferred from direct assay	15186776	GOA
involved in protein geranylgeranylation	IMP IMP: Inferred from mutant phenotype	12356470	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of Rab-protein geranylgeranyltransferase complex	IMP IMP: Inferred from mutant phenotype	12356470	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHML Protein Structure

GDI

0
200
400
600
656 a.a.

Protein Preferred Names

Protein Names

rab proteins geranylgeranyltransferase component A 2

CHM like Rab escort protein 2

Related Diseases

Diseases

Alias

Choroideremia

CHM	Tcd
Progressive Tapetochoroidal Dystrophy	Choroidal Sclerosis
Tapetochoroidal Dystrophy, Progressive	Progressive Choroidal Atrophy
Tapetochoroidal Dystrophy

Holoprosencephaly 6

HPE6

Choroid Disease

Choroid Diseases

Abnormality Of The Choroid

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

Holoprosencephaly 2

HPE2	Holoprosencephaly-2
Holoprosencephaly, Type 2

Dilated Cardiomyopathy 1t

Cmd1t

Cardiomyopathy, Dilated, 1t

Pseudohypoparathyroidism, Type Ib

Pseudohypoparathyroidism Type 1b	PHP1B
Pseudohypoparathyroidism Ib	Pseudohypoparathyroidism Type Ib
Php Ib	Pseudohypoparathyroidism 1b

Uveal Disease

Uveal Diseases

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02637	CHML Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CHML	VGNC	VGNC:27298
Rattus norvegicus	CHML	RGD	RGD:1596201
Mus musculus	CHML	MGD	MGI:101913

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