Cystinosin - CISMeF

Preferred Label : Cystinosin;

NCIt synonyms : CTNS;

NCIt definition : Cystinosin (367 aa, 42 kDa) is encoded by the human CTNS gene. This protein is involved in the transport of cystine and protons out of lysosomes and melanosomes.;

Détails

Origin ID

C191830;

UMLS CUI

C0673149;

OMIM relation
- Cystinosin [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- CTNS protein, human [MeSH Supplementary Concept]
- CTNS protein, human [MeSH concept]
gene_encodes_gene_product
- CTNS Gene [NCIt concept]
- Ligand Binding Protein Gene [NCIt concept]
- Transport Protein Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cellular Membrane [NCIt concept]
- Membrane of the Lysosome [NCIt concept]
gene_product_has_biochemical_function
- Amino Acid Transporter [NCIt concept]
- Solute Carrier Family [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ligand Binding Domain [NCIt concept]
gene_product_is_element_in_pathway
- Lysosome Assembly Pathway [NCIt concept]
gene_product_plays_role_in_biological_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]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients