Disease-gene associations mined from literature

Literature associating ASIC1 and autosomal recessive pseudohypoaldosteronism type 1

ASIC1 [ENSP00000228468]

Amiloride-sensitive cation channel 2, neuronal; Isoform 2 and isoform 3 function as proton-gated sodium channels; they are activated by a drop of the extracellular pH and then become rapidly desensitized. The channel generates a biphasic current with a fast inactivating and a slow sustained phase. Has high selectivity for sodium ions and can also transport lithium ions with high efficiency. Isoform 2 can also transport potassium, but with lower efficiency. It is nearly impermeable to the larger rubidium and cesium ions. Isoform 3 can also transport calcium ions. Mediates glutamate-independent Ca(2+) entry into neurons upon acidosis. This Ca(2+) overloading is toxic for cortical neurons and may be in part responsible for ischemic brain injury. Heteromeric channel assembly seems to modulate channel properties. Functions as a postsynaptic proton receptor that influences intracellular Ca(2+) concentration and calmodulin-dependent protein kinase II phosphorylation and thereby the density of dendritic spines. Modulates activity in the circuits underlying innate fear.

Synonyms:  ASIC1,  ASIC1p,  hASIC1,  ASIC1-001,  ASIC1-002 ...

Linkouts:  STRING  Pharos  UniProt