CALHM1

Description

The CALHM1 (calcium homeostasis modulator 1) is a protein-coding gene located on chromosome 10.

CALHM1, or Calcium homeostasis modulator 1, is a pore-forming subunit of a voltage-gated ion channel and a voltage-gated ATP channel. It is encoded by the CALHM1 gene and is involved in various cellular processes, particularly calcium homeostasis. In the central nervous system, CALHM1 is preferentially expressed in the hippocampus, a brain region critical for memory formation. Studies suggest that CALHM1 plays a role in regulating neuronal intracellular calcium levels, neuronal excitability, and memory function. Additionally, it may be involved in the degradation of amyloid beta peptides, which are implicated in Alzheimer's disease. In the peripheral taste system, CALHM1 is expressed in taste bud cells where it contributes to purinergic receptor-mediated taste transduction, specifically involved in the perception of sweet, bitter, and umami tastes.

CALHM1 is a pore-forming subunit of a voltage-gated ion channel involved in the sensory perception of sweet, bitter, and umami tastes. Specifically found in type II taste bud cells, CALHM1 plays a crucial role in taste perception by triggering ATP release from the cell, which then acts as a neurotransmitter to activate afferent neural gustatory pathways. In conjunction with CALHM3, CALHM1 forms a fast-activating voltage-gated ATP-release channel in type II taste bud cells. It acts as both a voltage-gated and calcium-activated ion channel, mediating neuronal excitability in response to changes in extracellular calcium concentrations. Due to its wide pore, CALHM1 exhibits poor ion selectivity and permits the passage of calcium, sodium, potassium, and monovalent anions. It also activates the ERK1 and ERK2 cascade and triggers endoplasmic reticulum stress by reducing the calcium content of the endoplasmic reticulum. CALHM1 may indirectly regulate amyloid precursor protein proteolysis and aggregated amyloid-beta peptide levels in a calcium-dependent manner.

CALHM1 is also known as FAM26C.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing