Disease-gene associations mined from literature

Literature associating SIGMAR1 and amyotrophic lateral sclerosis type 16

SIGMAR1 [ENSP00000277010]

Sigma non-opioid intracellular receptor 1; Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellular functions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane. Involved in the regulation of different receptors it plays a role in BDNF signaling and EGF signaling. Also regulates ion channels like the potassium channel and could modulate neurotransmitter release. Plays a role in calcium signaling through modulation together with ANK2 of the ITP3R-dependent calcium efflux at the endoplasmic reticulum. Plays a role in several other cell functions including proliferation, survival and death. Originally identified for its ability to bind various psychoactive drugs it is involved in learning processes, memory and mood alteration. Necessary for proper mitochondrial axonal transport in motor neurons, in particular the retrograde movement of mitochondria (By similarity); Belongs to the ERG2 family.

Synonyms:  SIGMAR1,  SIGMAR1p,  hSIGMAR1,  A2A3U5,  Q5T1J1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM