CTNS
Sign in to saveAlso known as CTNS-LSB, PQLC4, cystinosin, lysosomal cystine transporter, SLC66A4
protein-coding gene in the species Homo sapiens
Gene data
CTNS- Name
- cystinosin, lysosomal cystine transporter
- Type
- protein-coding
- Aliases
- CTNS-LSB, PQLC4, SLC66A4
This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009].
via MyGene.info
Gene · Ensembl
cystinosin, lysosomal cystine transporter
- Symbol
- CTNS
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 17:3,636,446-3,663,103
- Strand
- Forward (+)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 3625
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/1497
- genomic end
- 3663103
- genomic start
- 3636459
- chromosome
- human chromosome 17
- cytogenetic location
- 17p13.2
via Wikidata · CC0