Cystinosin (CTNS)
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Function
Structure
- some simililarity to yeast ERS1, thought to be involved in retention of luminal endoplasmic reticulum proteins[1]
- belongs to the cystinosin family
- contains 2 PQ-loop domains (123-189 & 263-328) both spanning 2 transmembrane domains a cytoplasmic loop & the initial part of an exoplasmic loop
Compartment
- lysosome membrane; multi-pass membrane protein
Alternative splicing
named isoforms=2
Expression
- strongly expressed in pancreas, kidney (adult & fetal) & in skeletal muscle
- expressed at lower levels in placenta & heart
- weakly expressed in lung, liver & brain (adult & fetal)
Pathology
- defects in CTNS are the cause of nephropathic cystinosis
Laboratory
More general terms
References
- ↑ 1.0 1.1 Town M et al A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nature Genet 18:319-24, 1998 PMID: https://www.ncbi.nlm.nih.gov/pubmed/19430480
- ↑ UniProt http://www.uniprot.org/uniprot/O60931.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/CTNS
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1497
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1497
- OMIM: https://mirror.omim.org/entry/219750
- OMIM: https://mirror.omim.org/entry/219800
- OMIM: https://mirror.omim.org/entry/219900
- OMIM: https://mirror.omim.org/entry/606272
- UniProt: http://www.uniprot.org/uniprot/O60931.html