full name
cystinosin, lysosomal cystine transporter

synonyms
CTNS-LSB, PQLC4, CTNS, ENSG00000040531

HGNC
HGNC:2518

Entrez Gene
Gene:1497

ENSEMBL
ENSG00000040531

location
chr: 17
start: 3539762
stop: 3566397
strand: +

OMIM
OMIM:606272: CTNS (Autosomal recessive inheritance)
OMIM:219800: Cystinosis, atypical nephropathic
OMIM:219900: Cystinosis, late-onset juvenile or adolescent nephropathic
OMIM:219800: Cystinosis, nephropathic
OMIM:219750: Cystinosis, ocular nonnephropathic

transcripts
NM_004937.2
NM_001031681.2

pathways
Lysosome [NCBI:99052] [KEGG:hsa04142] [PUBMED:12628346] [PUBMED:18635948] [PUBMED:15987739] [PUBMED:2943218] [PUBMED:1883197]
Miscellaneous transport and binding events [NCBI:1269955] [REACTOME:R-HSA-5223345] [PUBMED:19234479] [PUBMED:19164095]
SLC-mediated transmembrane transport [NCBI:1269907] [REACTOME:R-HSA-425407] [PUBMED:19164095] [PUBMED:14624363]
Transmembrane transport of small molecules [NCBI:1269903] [REACTOME:R-HSA-382551]
Transport of inorganic cations/anions and amino acids/oligopeptides [NCBI:1269908] [REACTOME:R-HSA-425393] [PUBMED:18195086] [PUBMED:16461757] [PUBMED:18400693] [PUBMED:17581921] [PUBMED:18690016] [PUBMED:16955105] [PUBMED:12759754] [PUBMED:17693766] [PUBMED:12739168] [PUBMED:12734757] [PUBMED:19164095] [PUBMED:12845533]