MTTP wt Allele

Preferred Label : MTTP wt Allele;

NCIt synonyms : Microsomal Triglyceride Transfer Protein (Large Polypeptide, 88kD) Gene; MTP, Large Subunit Gene; Microsomal Triglyceride Transfer Protein wt Allele; Microsomal Triglyceride Transfer Protein, 88-kD Gene; MTP; ABL; Microsomal Triglyceride Transfer Protein (Large Polypeptide, 88kDa) Gene;

NCIt definition : Human MTTP wild-type allele is located in the vicinity of 4q24 and is approximately 60 kb in length. This allele, which encodes microsomal triglyceride transfer protein large subunit protein, is involved in triglyceride, cholesteryl ester, and phospholipid transport. Mutation of the gene is associated with abetalipoproteinemia.;

GenBank Accession Number : NM_000253;

Details

Origin ID

C116415;

UMLS CUI

C3890208;

Automatic exact mappings (from CISMeF team)
- ABL proto-oncogene 1, non-receptor tyrosine kinase [ORDO Gene]
- Abetalipoproteinemia [OMIM Phenotype]
- Abl protooncogene 1, nonreceptor tyrosine kinase [OMIM gene]
- Maltose tetrapalmitate (substance) [SNOMED CT concept]
- Microsomal triglyceride transfer protein [OMIM gene]
- Vasoproliferative tumor of the retina [ORDO Disease]
- genes, abl [MeSH concept]
- genes, abl [MeSH Descriptor]
- metatarsophalangeal joint [MeSH Descriptor]
- microsomal triglyceride transfer protein [ORDO Gene]
OMIM relation
- Microsomal triglyceride transfer protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Lipid Binding [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Lipid Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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