Gene: CHMP1A

Alternate names for this Gene: CHMP1|PCH8|PCOLN3|PRSM1|VPS46-1|VPS46A

Gene Summary: This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.3

Description of this Gene: charged multivesicular body protein 1A

Type of Gene: protein-coding

rs428232 in CHMP1A gene and Creatinine measurement, serum (procedure) PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

rs2460457 in CHMP1A gene and Diastolic blood pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs764358419 in CHMP1A gene and Dysmorphic features PMID 11559747 2001 CHMP1 is a novel nuclear matrix protein affecting chromatin structure and cell-cycle progression.

PMID 11559748 2001 CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins.

PMID 23023333 2012 CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.

rs4785699 in CHMP1A gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs428232 in CHMP1A gene and Glomerular Filtration Rate PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

rs764358419 in CHMP1A gene and Multiple congenital anomalies PMID 11559747 2001 CHMP1 is a novel nuclear matrix protein affecting chromatin structure and cell-cycle progression.

PMID 11559748 2001 CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins.

PMID 23023333 2012 CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.

rs11648089 in CHMP1A gene and Suntan PMID 29739929 2018 Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.