SIGMAR1 Antibody – Rabbit Polyclonal

SIGMAR1: 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. Defects in SIGMAR1 are the cause of amyotrophic lateral sclerosis type 16, juvenile (ALS16). ALS16 is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5- 10% of the cases. Belongs to the ERG2 family. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: Receptor, misc.; Membrane protein, integral; Nuclear envelope

Chromosomal Location of Human Ortholog: 9p13.3

Cellular Component: nuclear outer membrane; endoplasmic reticulum membrane; growth cone; integral to plasma membrane; integral to membrane; nuclear inner membrane; lipid particle; nuclear envelope; cell junction

Molecular Function: opioid receptor activity; drug binding

Biological Process: nervous system development; regulation of neuron apoptosis; lipid transport

Disease: Amyotrophic Lateral Sclerosis 16, Juvenile