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.
Klonalität:
Polyclonal
Konzentration:
1ug/ul
Puffer:
Aqueous buffered solution containing 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
Quelle:
KLH conjugated synthetic peptide derived from human ALS2
