NP_001026851.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
cystinosin isoform 1
NCBI Official Synonym Full Names
cystinosin, lysosomal cystine transporter
NCBI Protein Information
cystinosin
UniProt Protein Name
Cystinosin
NCBI Summary for CTNS
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]
UniProt Comments for CTNS
Cystine/H+ symporter thought to transport cystine out of lysosomes. Plays an important role in melanin synthesis, possibly by preventing melanosome acidification and subsequent degradation of tyrosinase TYR.
Research Articles on CTNS
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Pathways associated with anti-CTNS antibody
Diseases associated with anti-CTNS antibody
Organs/Tissues associated with anti-CTNS antibody
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