QuickView for Cystinosin (gene)

Gene Symbol:

CTNS Homo sapiens

Full name:

cystinosin, lysosomal cystine transporter

Synonyms:

CTNS-LSB, PQLC4, cystinosin, cystinosis nephropathic

Genomic Location:

Chr 17: 3486511-3513146

Description:

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.

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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Gallus gallus ,  Canis lupus familiaris ,  Danio rerio ,  Bos taurus ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TCANNTGAY_SREBP1_01 ,  GCTTGAA_MIR498 ,  CAGGTG_E12_Q6 ,  CTACCTC_LET7A_LET7B_LET7C_LET7D_LET7E_LET7F_MIR98_LET7G_LET7I ,  TGCCTTA_MIR124A ,  USF_02

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for let-7 ,  Predicted Gene Targets for miR-124a ,  Predicted Gene Targets for miR-124u

Cytogenetic Map:

17p13.2

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