Phosphatidylinositolglycan, class M deficiency (Q100780): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||||||||||||||
| (2 intermediate revisions by the same user not shown) | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
15 August 2026
| |||||||||||||||
| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 17:32, 16 August 2026
This refers to an enzyme that in humans is encoded by the PIGA gene. This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterised.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1951173236 |
||
| English | Phosphatidylinositolglycan, class M deficiency |
This refers to an enzyme that in humans is encoded by the PIGA gene. This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterised. |
Statements
CID11:ID_1951173236
0 references
dki-india-ID_1951173236
0 references
Concluído
0 references
15 August 2026
0 references
