TTC7A wt Allele

Preferred Label : TTC7A wt Allele;

NCIt synonyms : TTC7; Tetratricopeptide Repeat Domain 7A wt Allele; KIAA1140; GIDID; MINAT; Tetratricopeptide Repeat Domain 7 Gene;

NCIt definition : Human TTC7A wild-type allele is located in the vicinity of 2p21 and is approximately 160 kb in length. This allele, which encodes tetratricopeptide repeat protein 7A, plays a role in phosphatidylinositol 4-phosphate synthesis. Mutation of the gene is associated with gastrointestinal defects and immunodeficiency syndrome (GIDID).;

NCI Metathesaurus CUI : CL1642420;

GenBank Accession Number : AB032966;

Details

Origin ID

C176590;

UMLS CUI

C5444332;

Automatic exact mappings (from CISMeF team)
- Gastrointestinal defects and immunodeficiency syndrome 1 [OMIM Phenotype]
- Tetratricopeptide repeat domain-containing protein 7a [OMIM gene]
- multiple intestinal atresia [DO Concept]
- tetratricopeptide repeat domain 7A [ORDO Gene]
OMIM relation
- Tetratricopeptide repeat domain-containing protein 7a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2p21 [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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