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
Show 5 more facts
- HomoloGene ID
- 3625
- exact match
- identifiers.org/ncbigene/1497
- genomic end
- 3663103
- genomic start
- 3636459
- cytogenetic location
- 17p13.2
via Wikidata · CC0
Connections
Q180686
Entity
Ensembl genome database project
Entity
protein
Entity
Wikidata
Entity
gene
Entity
chromosome
Entity
amino acid
Entity
digital object identifier
Entity
mutation
Entity
lysosome
Entity
melanin
Entity
nephron
Entity
L-Cysteine
Entity
human genome
Entity
Q229883
Entity
cytosol
Entity
base pair
Entity
homology
Entity
autosome
Entity
locus
Entity