Beta-actin Monoclonal Antibody(A02), 20ul Cell Function Analysis Mutations in PEX1 have been

Mutations in PEX1 have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy

The SH2 (Src Homology 2) domain is a structurally conserved motif that contains two alpha helices and seven beta strands and is found in a variety of proteins that are involved in signal transduction throughout the cell

and mutations in this gene have been associated with congenital chloride diarrhea

GO annotations related to this gene include receptor binding and ATPase activity

Beta-actin Monoclonal Antibody(A02), 20ul Cell Function Analysis Mutations in PEX1 have beenThis gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, and integrity. This actin is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins.