DISEASES

Disease-gene associations mined from literature

Literature associating CLDN15 and congenital lactase deficiency

CLDN15 [ENSP00000385300]

Claudin-15; Claudins function as major constituents of the tight junction complexes that regulate the permeability of epithelia. While some claudin family members function as impermeable barriers, others mediate the permeability to ions and small molecules. Often, several claudin family members are coexpressed and interact with each other, and this determines the overall permeability. CLDN15 forms tight junctions that mediate the paracellular transport of small monovalent cations along a concentration gradient, due to selective permeability for Na(+), Li(+) and K(+) ions, but selects against Cl(-) ions. Plays an important role in paracellular Na(+) transport in the intestine and in Na(+) homeostasis. Required for normal Na(+)-dependent intestinal nutrient uptake.

Synonyms:  CLDN15,  CLDN15p,  hCLDN15,  C9J3Z2,  C9JHQ4 ...

Linkouts:  STRING  Pharos  UniProt