PHLD Polyclonal Antibody, 20ul Nucleic Acid Amplification Mutations in GJA1 have been

Mutations in GJA1 have been associated with oculodentodigital dysplasia

This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins

Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome

Defects in TMEM237 are a cause of Joubert syndrome-14

Cells adhere strongly to the surface because of the advanced hydrophilic treatment

PHLD Polyclonal Antibody, 20ul Nucleic Acid Amplification Mutations in GJA1 have beenMany proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma