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- Table of Contents
Facts about Cystinosin.
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Human | |
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Gene Name: | CTNS |
Uniprot: | O60931 |
Entrez: | 1497 |
Belongs to: |
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cystinosin family |
CTNS-LSB; cystinosin; cystinosis, nephropathic; PQLC4
Mass (kDA):
41.738 kDA
Human | |
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Location: | 17p13.2 |
Sequence: | 17; NC_000017.11 (3636468..3663103) |
Strongly expressed in pancreas, kidney (adult and fetal), skeletal muscle, melanocytes and keratinocytes. Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal). Isoform 2 represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions.
[Isoform 1]: Lysosome membrane; Multi-pass membrane protein. Melanosome.; [Isoform 2]: Lysosome membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
PMID: 9537412 by Town M., et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.
PMID: 10673275 by Touchman J.W., et al. The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.