Gene: GPAA1

Alternate names for this Gene: GAA1|GPIBD15|hGAA1

Gene Summary: Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.3

Description of this Gene: glycosylphosphatidylinositol anchor attachment 1

Type of Gene: protein-coding

rs1010907740 in GPAA1 gene and GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 PMID 29100095 2017 Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

rs6558295 in GPAA1 gene and Glucose measurement PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.

rs6558295 in GPAA1 gene and elevated blood glucose level PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.