Gene: CHMP5

Alternate names for this Gene: C9orf83|CGI-34|HSPC177|PNAS-2|SNF7DC2|Vps60

Gene Summary: CHMP5 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].

Gene is located in Chromosome: 9

Location in Chromosome : 9p13.3

Description of this Gene: charged multivesicular body protein 5

Type of Gene: protein-coding

rs12336115 in CHMP5 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.