Gene: PIGF

Alternate names for this Gene: -

Gene Summary: This gene encodes a protein involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor, a glycolipid containing three mannose molecules in its core backbone, is found on many blood cells where it serves to anchor proteins to the cell surface. The encoded protein and another GPI synthesis protein, PIGO, function in the transfer of ethanolaminephosphate to the third mannose in GPI. Alternatively spliced transcript variants encoding different isoforms have been described.

Gene is located in Chromosome: 2

Location in Chromosome : 2p21

Description of this Gene: phosphatidylinositol glycan anchor biosynthesis class F

Type of Gene: protein-coding

Gene: CRIPT

Alternate names for this Gene: HSPC139|SSMDF

Gene Summary: This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies.

Gene is located in Chromosome: 2

Location in Chromosome : 2p21

Description of this Gene: CXXC repeat containing interactor of PDZ3 domain

Type of Gene: protein-coding

rs982414 in PIGF;CRIPT gene and Dipstick assessment of hemoglobin concentration PMID 20534544 2010 Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders.

rs982414 in PIGF;CRIPT gene and Finding of hemoglobin concentration PMID 20534544 2010 Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders.

rs982414 in PIGF;CRIPT gene and Hemoglobin concentration result PMID 20534544 2010 Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders.