Human phosphatidylinositol glycan anchor biosynthesis, class V ELISA Kit | PIGV elisa kit
Human GPI mannosyltransferase 2, PIGV ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia mental retardation syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
Uniprot Description
PIGV: Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly. Defects in PIGV are the cause of hyperphosphatasia with mental retardation type 1 (HPMRS1). It is a syndrome characterized by elevated serum alkaline phosphatase, severe mental retardation, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges. Belongs to the PIGV family.
Protein type: Endoplasmic reticulum; Membrane protein, integral; Transferase; Membrane protein, multi-pass; Glycan Metabolism - glycosylphosphatidylinositol (GPI)-anchor biosynthesis; EC 2.4.1.-
Chromosomal Location of Human Ortholog: 1p36.11
Cellular Component: endoplasmic reticulum membrane; integral to membrane
Molecular Function: mannosyltransferase activity
Biological Process: cellular protein metabolic process; preassembly of GPI anchor in ER membrane; GPI anchor biosynthetic process; C-terminal protein lipidation; post-translational protein modification
Disease: Hyperphosphatasia With Mental Retardation Syndrome 1
Research Articles on PIGV
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Product Notes
The Human PIGV pigv (Catalog #AAA9336771) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9336771 ELISA Kit recognizes Human PIGV. It is sometimes possible for the material contained within the vial of "phosphatidylinositol glycan anchor biosynthesis, class V, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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