NP_001034625.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
Molecular Weight
28,183 Da
NCBI Official Full Name
N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase
NCBI Official Synonym Full Names
phosphatidylinositol glycan anchor biosynthesis, class L
NCBI Official Synonym Symbols
NCBI Protein Information
N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase; PIG-L; phosphatidylinositol glycan, class L; phosphatidylinositol-glycan biosynthesis class L protein; ortholog of human and rat phosphatidylinositol glycan class L PIGL
UniProt Protein Name
N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase
UniProt Synonym Protein Names
Phosphatidylinositol-glycan biosynthesis class L protein; PIG-L
UniProt Synonym Gene Names
UniProt Entry Name
PIGL_MOUSE
UniProt Comments for PIGL
PIGL: Involved in the second step of GPI biosynthesis. De-N- acetylation of N-acetylglucosaminyl-phosphatidylinositol. Defects in PIGL are the cause of 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. Belongs to the PIGL family.
Protein type: Glycan Metabolism - glycosylphosphatidylinositol (GPI)-anchor biosynthesis; Deacetylase; EC 3.5.1.89; Membrane protein, integral
Cellular Component: membrane; endoplasmic reticulum; integral to membrane
Molecular Function: N-acetylglucosaminylphosphatidylinositol deacetylase activity; hydrolase activity
Biological Process: GPI anchor biosynthetic process
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Pathways associated with PIGL elisa kit
Diseases associated with PIGL elisa kit
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