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 (By similarity). 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 (By similarity). Together with CALHM3, forms a fast-activating voltage-gated ATP-release channel in type II taste bud cells (TBCs) (By similarity). 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 . ECO:0000269|PubMed:21574960, ECO:0000269|PubMed:22711817,

Synonyms:  CALHM1,  CALHM1p,  hCALHM1,  Q8IU99,  Q8IU99p ...

Linkouts:  STRING  Pharos  UniProt  OMIM