XK wt Allele - CISMeF

Preferred Label : XK wt Allele;

NCIt synonyms : KX; Neurocanthocytosis Gene; NAC; X1k; NA; Neuroacanthocytosis Gene; XK, Kell Blood Group Complex Subunit (McLeod Syndrome) Gene; Kell Blood Group Precursor (McLeod Phenotype) Gene; XKR1; X-Linked Kx Blood Group wt Allele; XK Locus Gene; Precursor Substance, Kell Blood Group Gene; McLeod Syndrome Gene; Kell Blood Group Precursor Gene;

NCIt definition : Human XK wild-type allele is located in the vicinity of Xp21.1 and is approximately 46 kb in length. This allele, which encodes membrane transport protein XK, may be involved in transmembrane transport of amino acids or peptides. Mutation or deletion of the gene is associated with the McLeod phenotype of the Kell blood group system.;

NCI Metathesaurus CUI : CL545840;

GenBank Accession Number : Z32684;

Details

Origin ID

C148002;

UMLS CUI

C4552882;

Automatic exact mappings (from CISMeF team)
- ATPase Na+/K+ transporting family member beta 4 [HGNC gene]
- Kell blood group protein, mcleod syndrome-associated [OMIM gene]
- McLeod neuroacanthocytosis syndrome [ORDO Disease]
- NLR family pyrin domain containing 1 [ORDO Gene]
- X-linked Kx blood group antigen, Kell and VPS13A binding protein [ORDO Gene]
- acetylcysteine [MeSH Descriptor]
- bone diseases [MeSH Descriptor]
- nasal artery [UBERON concept]
- nascent polypeptide-associated complex [GO term]
OMIM relation
- Kell blood group protein, mcleod syndrome-associated [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]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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