ABCC6 wt Allele

Preferred Label : ABCC6 wt Allele;

NCIt synonyms : URG7; ARA; GACI2; ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 6 wt Allele; PXE; EST349056; MLP1; MRP6; MOAT-E; MOATE; PXE1; Pseudoxanthoma Elasticum Gene; ABC34; ATP-Binding Cassette, Subfamily C, Member 6 Gene;

NCIt definition : Human ABCC6 wild-type allele is located in the vicinity of 16p13.1 and is approximately 75 kb in length. This allele, which encodes multidrug resistance-associated protein 6, plays a role in the active transport of drugs across the plasma membrane. Mutation of the gene is associated with pseudoxanthoma elasticum and generalized arterial calcification of infancy type 2.;

GenBank Accession Number : AF076622;

Details

Origin ID

C116947;

UMLS CUI

C3890184;

Automatic exact mappings (from CISMeF team)
- ATP binding cassette subfamily C member 6 [ORDO Gene]
- Arterial calcification, generalized, of infancy, 2 [OMIM Phenotype]
- Atp-binding cassette, subfamily C, member 6 [OMIM gene]
- Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency (disorder) [SNOMED CT concept]
- Product containing vidarabine (medicinal product) [SNOMED CT concept]
- Pseudoxanthoma elasticum [ORDO Disease]
- Pseudoxanthoma elasticum [OMIM Phenotype]
- Pseudoxanthoma elasticum [ICD-11 Category]
- adenoviridae [MeSH Descriptor]
- connective tissue disorders [MedlinePlus Topic]
- forkhead box C1 [ORDO Gene]
- vidarabine [MeSH Descriptor]
OMIM relation
- Atp-binding cassette, subfamily C, member 6 [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
- 16p13.1 [NCIt concept]
gene_is_element_in_pathway
- ABC Transporter Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Drug Efflux [NCIt concept]
- Drug Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Multidrug Resistance Process [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]
- Tumorigenesis [NCIt concept]

Keyword's position in hierarchy(ies) :

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