PIGL

This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq]

Full Name

phosphatidylinositol glycan anchor biosynthesis, class L

Function

Involved in the second step of GPI biosynthesis. De-N-acetylation of N-acetylglucosaminyl-phosphatidylinositol.

Biological Process

GPI anchor biosynthetic processManual Assertion Based On ExperimentIBA:GO_Central
Preassembly of GPI anchor in ER membraneTAS:Reactome

Cellular Location

Endoplasmic reticulum membrane

Involvement in disease

Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome (CHIME):
An extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies including conductive hearing loss. Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties.

Topology

Helical: 2-22
Cytoplasmic: 23-252