SLC6A8 wt Allele

Preferred Label : SLC6A8 wt Allele;

NCIt synonyms : CRTR; Solute Carrier Family 6 (Neurotransmitter Transporter, Creatine), Member 8 Gene; CTR5; CT1; CCDS1; CRT; Solute Carrier Family 6 Member 8 wt Allele; Solute Carrier Family 6 (Neurotransmitter Transporter), Member 8 Gene;

NCIt definition : Human SLC6A8 wild-type allele is located in the vicinity of Xq28 and is approximately 8 kb in length. This allele, which encodes sodium- and chloride-dependent creatine transporter 1 protein, is involved in muscle cell physiology and creatine/phosphocreatine transport. Alterations of the gene are associated with X-linked creatine deficiency syndrome.;

NCI Metathesaurus CUI : CL554932;

GenBank Accession Number : NM_001142805;

Details

Origin ID

C153431;

UMLS CUI

C4724071;

Automatic exact mappings (from CISMeF team)
- Calreticulin [OMIM gene]
- Capillary refill [LOINC component]
- Cardiotrophin 1 [OMIM gene]
- Cerebral creatine deficiency syndrome 1 [OMIM Phenotype]
- Solute carrier family 6 (neurotransmitter transporter, creatine), member 8 [OMIM gene]
- calreticulin [ORDO Gene]
- creatine deficiency, X-linked [MeSH Supplementary Concept]
- solute carrier family 6 member 8 [ORDO Gene]
OMIM relation
- Solute carrier family 6 (neurotransmitter transporter, creatine), member 8 [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
- Xq28 [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Muscle Contraction [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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