Gene: LOC102724329

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: ATF6

Alternate names for this Gene: ACHM7|ATF6A

Gene Summary: This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis.

Gene is located in Chromosome: 1

Location in Chromosome : 1q23.3

Description of this Gene: activating transcription factor 6

Type of Gene: protein-coding

rs797045170 in LOC102724329;ATF6 gene and ACHROMATOPSIA 7 PMID 26029869 2015 Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

rs797045170 in LOC102724329;ATF6 gene and Achromatopsia PMID 26029869 2015 Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.