CTNS wt Allele

Preferred Label : CTNS wt Allele;

NCIt synonyms : Cystinosis, Nephropathic Gene; Cystinosis Nephropathic Gene; Cystinosin, Lysosomal Cystine Transporter wt Allele; PQLC4; SLC66A4; CTNS-LSB;

NCIt definition : Human CTNS wild-type allele is located in the vicinity of 17p13.2 and is approximately 27 kb in length. This allele, which encodes cystinosin protein, plays a role in cystine/proton symport. Mutation of the gene is associated with multiple forms nephropathic cystinosis including the atypical, the ocular and the late-onset juvenile or adolescent forms.;

NCI Metathesaurus CUI : CL1905136;

GenBank Accession Number : AJ222967;

Details

Origin ID

C191829;

UMLS CUI

C5780789;

OMIM relation
- Cystinosin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17p13.2 [NCIt concept]
gene_is_element_in_pathway
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Melanogenesis [NCIt concept]
- Signal Transduction [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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