PIGN wt Allele

Preferred Label : PIGN wt Allele;

NCIt synonyms : PIG-N; Phosphatidylinositol Glycan Anchor Biosynthesis Class N wt Allele; MCAHS; Phosphatidylinositol Glycan, Class N Gene; MCAHS1; MCD4; MDC4;

NCIt definition : Human PIGN wild-type allele is located in the vicinity of 18q21.33 and is approximately 282 kb in length. This allele, which encodes GPI ethanolamine phosphate transferase 1 protein, is involved in the synthesis of glycosylphosphatidylinositol-anchors used in post-translational protein modification. Mutations in the gene are associated with multiple congenital anomalies-hypotonia-seizures syndrome 1.;

NCI Metathesaurus CUI : CL1926586;

GenBank Accession Number : AF109219;

Details

Origin ID

C204488;

UMLS CUI

C5890985;

OMIM relation
- Phosphatidylinositol glycan anchor biosynthesis class n protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Glycosylphosphatidylinositol-Anchor Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Phospholipid Metabolism [NCIt concept]
- Protein Glycosylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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