Description
Antibody Name: | PIGL Antibody (PACO42814) |
Antibody SKU: | PACO42814 |
Size: | 50ug |
Host Species: | Rabbit |
Tested Applications: | ELISA, IHC |
Recommended Dilutions: | ELISA:1:2000-1:10000, IHC:1:20-1:200 |
Species Reactivity: | Human |
Immunogen: | Recombinant Human N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase protein (23-252AA) |
Form: | Liquid |
Storage Buffer: | Preservative: 0.03% Proclin 300 Constituents: 50% Glycerol, 0.01M PBS, PH 7.4 |
Purification Method: | >95%, Protein G purified |
Clonality: | Polyclonal |
Isotype: | IgG |
Conjugate: | Non-conjugated |
Immunohistochemistry of paraffin-embedded human liver tissue using PACO42814 at dilution of 1:100. | |
Immunohistochemistry of paraffin-embedded human spleen tissue using PACO42814 at dilution of 1:100. |
Background: | Involved in the second step of GPI biosynthesis. De-N-acetylation of N-acetylglucosaminyl-phosphatidylinositol. |
Synonyms: | N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase (EC 3.5.1.89) (Phosphatidylinositol-glycan biosynthesis class L protein) (PIG-L), PIGL |
UniProt Protein Function: | 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: Deacetylase; Membrane protein, integral; Glycan Metabolism - glycosylphosphatidylinositol (GPI)-anchor biosynthesis; EC 3.5.1.89Chromosomal Location of Human Ortholog: 17p11.2Cellular Component: endoplasmic reticulum membraneMolecular Function: N-acetylglucosaminylphosphatidylinositol deacetylase activityBiological Process: preassembly of GPI anchor in ER membraneDisease: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
UniProt Protein Details: | |
NCBI Summary: | 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, Jul 2008] |
UniProt Code: | Q9Y2B2 |
NCBI GenInfo Identifier: | 14916637 |
NCBI Gene ID: | 9487 |
NCBI Accession: | Q9Y2B2.1 |
UniProt Secondary Accession: | Q9Y2B2,A8KA67, B4DYN4 |
UniProt Related Accession: | Q9Y2B2 |
Molecular Weight: | 21,578 Da |
NCBI Full Name: | N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase |
NCBI Synonym Full Names: | phosphatidylinositol glycan anchor biosynthesis class L |
NCBI Official Symbol: | PIGL |
NCBI Official Synonym Symbols: | CHIME |
NCBI Protein Information: | N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase |
UniProt Protein Name: | N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase |
UniProt Synonym Protein Names: | Phosphatidylinositol-glycan biosynthesis class L protein; PIG-L |
Protein Family: | |
UniProt Gene Name: | PIGL |
UniProt Entry Name: | PIGL_HUMAN |