Gene: TRPV6

Alternate names for this Gene: ABP/ZF|CAT1|CATL|ECAC2|HRPTTN|HSA277909|LP6728|ZFAB

Gene Summary: This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. Translation initiation for this protein occurs at a non-AUG start codon that is decoded as methionine. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds.

Gene is located in Chromosome: 7

Location in Chromosome : 7q34

Description of this Gene: transient receptor potential cation channel subfamily V member 6

Type of Gene: protein-coding

rs4987668 in TRPV6 gene and Malignant Neoplasms PMID 29299148 2017 Cancer risk susceptibility loci in a Swedish population.

rs1281361203 in TRPV6 gene and Transient neonatal hyperparathyroidism PMID 29861107 2018 TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.

PMID 30820485 2019 TRPV6 Gene Mutation in a Dizygous Twin With Transient Neonatal Hyperparathyroidism.