CLCN7 wt Allele

Preferred Label : CLCN7 wt Allele;

NCIt synonyms : PPP1R63; Chloride Channel 7 Gene; CLC7; CLC-7; OPTA2; OPTB4; Chloride Channel, Voltage-Sensitive 7 wt Allele; Protein Phosphatase 1, Regulatory Subunit 63 Gene;

NCIt definition : Human CLCN7 wild-type allele is located in the vicinity of 16p13 and is approximately 31 kb in length. This allele, which encodes H( )/Cl(-) exchange transporter 7 protein, is involved in chloride ion transport. Mutation of the gene is associated with both osteopetrosis autosomal dominant type 2 and osteopetrosis autosomal recessive type 4.;

GenBank Accession Number : Z67743;

Details

Origin ID

C105878;

UMLS CUI

C3811087;

Automatic exact mappings (from CISMeF team)
- Chloride channel 7 [OMIM gene]
- Osteopetrosis, autosomal dominant 2 [OMIM Phenotype]
- Osteopetrosis, autosomal recessive 4 [OMIM Phenotype]
- autosomal dominant osteopetrosis 2 [DO Concept]
- chloride voltage-gated channel 7 [ORDO Gene]
OMIM relation
- Chloride channel 7 [OMIM gene]
See also inter- (CISMeF)
- autosomal recessive osteopetrosis 4 [DO Concept]
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
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]
- pH Homeostasis [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients