DISEASES

Disease-gene associations mined from literature

Literature associating CALHM1 and variant Creutzfeldt-Jakob disease

CALHM1 [ENSP00000329926]

Calcium homeostasis modulator protein 1; Pore-forming subunit of a voltage-gated ion channel required for sensory perception of sweet, bitter and umami tastes. Specifically present in type II taste bud cells, where it plays a central role in sweet, bitter and umami taste perception by inducing ATP release from the cell, ATP acting as a neurotransmitter to activate afferent neural gustatory pathways. Acts both as a voltage-gated and calcium-activated ion channel: mediates neuronal excitability in response to changes in extracellular Ca(2+) concentration. Has poor ion selectivity and forms a wide pore (around 14 Angstroms) that mediates permeation of Ca(2+), Na(+) and K(+), as well as permeation of monovalent anions. Acts as an activator of the ERK1 and ERK2 cascade. Triggers endoplasmic reticulum stress by reducing the calcium content of the endoplasmic reticulum. May indirectly control amyloid precursor protein (APP) proteolysis and aggregated amyloid-beta (Abeta) peptides levels in a Ca(2+) dependent manner; Calcium homeostasis modulators

Synonyms:  CALHM1,  CALHM1p,  hCALHM1,  Q8IU99,  FAM26C ...

Linkouts:  STRING  Pharos  UniProt  OMIM