SLC44A4 wt Allele

Preferred Label : SLC44A4 wt Allele;

NCIt synonyms : C6orf29; NG22; TPPT; Solute Carrier Family 44 Member 4 wt Allele; FLJ14491; hTPPT1; DFNA72; CTL4; UNQ441/PRO874; Chromosome 6 Open Reading Frame 29 Gene; Solute Carrier Family 44, Member 4 Gene;

NCIt definition : Human SLC44A4 wild-type allele is located in the vicinity of 6p21.33 and is approximately 16 kb in length. This allele, which encodes choline transporter-like protein 4, is involved in the transport of choline and thiamine pyrophosphate. Mutation of the gene is associated with autosomal dominant deafness 72 and sialidosis.;

NCI Metathesaurus CUI : CL1647576;

GenBank Accession Number : AF134726;

Details

Origin ID

C177727;

UMLS CUI

C5551278;

Automatic exact mappings (from CISMeF team)
- Deafness, autosomal dominant 72 [OMIM Phenotype]
- Solute carrier family 44, member 4 [OMIM gene]
- solute carrier family 44 member 4 [ORDO Gene]
OMIM relation
- Solute carrier family 44, member 4 [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_in_chromosomal_location
- 6p21.33 [NCIt concept]
gene_plays_role_in_process
- Hearing [NCIt concept]
- Homeostatic Process [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Phospholipid Metabolism [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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