CHMP4A - charged multivesicular body protein 4A Gene

Homo sapiens

Also known as SNF7; CHMP4; SHAX2; CHMP4B; SNF7-1; VPS32A; HSPC134; VPS32-1; C14orf123

Gene ID: 29082 | Gene type: protein coding

About CHMP4A

Cytogenetic location: 14q12 Genomic coordinates (GRCh38): 14:24,209,615-24,213,488 (from NCBI)

This gene has 10 transcripts (splice variants), 1 gene allele, 77 orthologues and 4 paralogues. Ubiquitous expression in fat (RPKM 27.3), lymph node (RPKM 25.9) and 25 other tissues.

Summary

CHMP4A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface Receptor Proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

CHMP4A Products(1)

mRNA	Protein	Name
NM_014169.5	NP_054888.3	charged multivesicular body protein 4a

CHMP4A Protein Structure

Snf7

0
100
200
222 a.a.

Protein Preferred Names

Protein Names

charged multivesicular body protein 4a

SNF7 homolog associated with Alix-2

Related Diseases

Diseases

Alias

Cataract 31, Multiple Types

Cataract, Posterior Polar, 3	Ctpp3
Cataract 31 Multiple Types	CTRCT31
Cpp3	Posterior Polar Cataract 3
Cataract, Type 31, Multiple Types

Cataract 32, Multiple Types

Cataract, Posterior Polar, 5	Ctpp5
CTRCT32	Ctaa1
Cataract, Anterior Polar	Cap
Cataract 32 Multiple Types	Cataract, Anterior Polar, 1
Anterior Polar Cataract 1	Posterior Polar Cataract 5
Cataract, Anterior Polar 1

Cataract 16, Multiple Types

Cataract 16 Multiple Types	CTRCT16
Ctpp2	Cataract, Posterior Polar, 2
Posterior Polar Cataract 2	Cataract, Congenital Lamellar
Congenital Lamellar Cataract

Cataract 11, Multiple Types

Cataract, Posterior Polar, 4	Ctpp4
Cpp4	Cataract 11 Multiple Types
CTRCT11	Cataract 11, Syndromic, Autosomal Recessive
Cataract 11 With Microphthalmia And Neurodevelopmental Abnormalities	Posterior Polar Cataract 4
Posterior Polar Cataract, 4	Cataract Posterior Polar 4
Syndromic Cataract 11	Cataract, Type 11, Multiple Types

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7

Ftd3	Frontotemporal Dementia, Chromosome 3-Linked
Amyotrophic Lateral Sclerosis, Chmp2b-Related	Chromosome 3-Linked Frontotemporal Dementia
FTDALS7	Chmp2b-Related Frontotemporal Dementia
Amyotrophic Lateral Sclerosis 17, Formerly	Als17, Formerly
Amyotrophic Lateral Sclerosis Type 17	Dtm1
Ftd-3	Ftd-Chmp2b
Als17	Amyotrophic Lateral Sclerosis 17
Sclerosis, Lateral, Amyotrophic, Type 17	Dementia, Frontotemporal, Chromosome 3-Linked

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-RS02643	CHMP4A Human Pre-designed siRNA Set A		/	Unkown

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