Gene: ATP6AP1

Alternate names for this Gene: 16A|ATP6IP1|ATP6S1|Ac45|CF2|VATPS1|XAP-3|XAP3

Gene Summary: This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: ATPase H+ transporting accessory protein 1

Type of Gene: protein-coding

rs1557196978 in ATP6AP1 gene and Abnormality of copper homeostasis PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

rs1557196978 in ATP6AP1 gene and Abnormality of the immune system PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

rs1557196978 in ATP6AP1 gene and Cutis Laxa PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

rs1557196978 in ATP6AP1 gene and Decreased serum ceruloplasmin PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

rs1557196978 in ATP6AP1 gene and Exocrine pancreatic insufficiency PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

rs1557196978 in ATP6AP1 gene and Hepatosplenomegaly PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

rs1557196978 in ATP6AP1 gene and IMMUNODEFICIENCY 47 PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

PMID 27231034 2016 ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.

rs1557196978 in ATP6AP1 gene and Muscle hypotonia PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.