ALS2 Polyclonal Antibody, APC-Cy7 Conjugated

Mutations in the ALS2 gene result in a number of juvenile recessive motor neuron diseases (MNDs), including juvenile primary lateral sclerosis (JPLS), a recessive form of amyotrophic lateral sclerosis (ALS2) ; infantile onset ascending hereditary spastic paralysis (IAHSP) ; and a form of complicated hereditary spastic paraplegia (cHSP) . The ALS2 gene encodes the Alsin protein. Alsin acts as a guanine nucleotide exchange factor for Rab5, a modulator of the endocytic pathway. Alsin is a cytosolic protein that is associated with small, punctate membrane structures. Therefore, Alsin may mediate membrane transport events, potentially linking endocytic processes and actin cytoskeleton remodeling. The ALS2 C-terminal-like protein (ALS2CL) also modulates Rab 5 activity.

ALS 2; ALS2; ALS2_HUMAN; ALS2CR6; Alsin; ALSJ; Amyotrophic lateral sclerosis 2 juvenile; Amyotrophic lateral sclerosis 2 juvenile chromosome region candidate 6; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein; Amyotrophic lateral sclerosis 2 protein; Amyotrophic lateral sclerosis protein 2; FLJ31851; IAHSP; KIAA1563; MGC87187; PLSJ.