SLC25A13 wt Allele

Preferred Label : SLC25A13 wt Allele;

NCIt synonyms : Solute Carrier Family 25 (Citrin), Member 13 Gene; Solute Carrier Family 25 Member 13 wt Allele; Citrullinemia Type II Gene; ARALAR-Related Gene 2; CTLN2; Solute Carrier Family 25, Member 13 (Citrin) Gene; ARALAR2; Solute Carrier Family 25 (Aspartate/Glutamate Carrier), Member 13 Gene; CITRIN; NICCD;

NCIt definition : Human SLC25A13 wild-type allele is located in the vicinity of 7q21.3 and is approximately 202 kb in length. This allele, which encodes electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial protein, plays a role in the malate-aspartate shuttle. Loss of function mutations in the gene are associated with citrullinemia type 2.;

NCI Metathesaurus CUI : CL1799109;

GenBank Accession Number : AF118838;

Details

Origin ID

C190628;

UMLS CUI

C5780788;

Automatic exact mappings (from CISMeF team)
- Citrin deficiency, adolescent or adult onset [OMIM Phenotype]
- Citrin deficiency, neonatal or infantile onset [OMIM Phenotype]
- Citrullinaemia type 2 [ICD-11 More detail]
- Citrullinemia type II [ORDO Disease]
- Neonatal intrahepatic cholestasis caused by citrin deficiency [ICD-11 More detail]
- Neonatal intrahepatic cholestasis due to citrin deficiency [ORDO Disease]
- citrin [MeSH Supplementary Concept]
- citrin [MeSH concept]
- neonatal-onset citrullinemia type 2 [MeSH Supplementary Concept]
OMIM relation
- Solute carrier family 25 (citrin), member 13 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Solute carrier family 25 (citrin), member 13 [OMIM gene]
- solute carrier family 25 member 13 [ORDO Gene]
gene_associated_with_disease
- Citrullinemia Type II [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7q21.3 [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Energy Metabolism Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

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