CLDN10 gene

claudin 10

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The expression level of this gene is associated with recurrence of primary hepatocellular carcinoma. Six alternatively spliced transcript variants encoding different isoforms have been reported, but the transcript sequences of some variants are not determined.[provided by RefSeq, Jun 2010]

From UniProt:

Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Involved in the regulation of paracellular epithelia permeability to ions in multiple organs. It acts as a paracellular ion channel probably forming permselective pores; isoform 1 appears to create pores preferentially permeable to cations and isoform 2 for anions. In sweat glands and in the thick ascending limb (TAL) of Henle's loop in kidney, it controls paracellular sodium permeability which is essential for proper sweat production and renal function (PubMed:19383724, PubMed:28771254, PubMed:28686597).

From NCBI Gene:

  • HELIX SYNDROME

From UniProt:

HELIX syndrome (HELIX): An autosomal recessive disease characterized by congenital heat intolerance, generalized anhidrosis, inability to produce tears, dry mouth, electrolyte imbalance, and ichthyosis. [MIM:617671]

Cytogenetic Location: 13q32.1, which is the long (q) arm of chromosome 13 at position 32.1

Molecular Location: base pairs 95,433,588 to 95,579,756 on chromosome 13 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 13q32.1, which is the long (q) arm of chromosome 13 at position 32.1
  • CPETRL3
  • HELIX
  • OSP-L
  • OSPL