SPAST Rabbit Polyclonal Antibody, 20ul Mammalian Expression Mutations in this gene cause

Mutations in this gene cause Wolf-Hirschhorn syndrome| a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4

wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons

The protein is a seven-span transmembrane protein and a member of the secretin receptor family

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SPAST Rabbit Polyclonal Antibody, 20ul Mammalian Expression Mutations in this gene causeThis gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking intracellular motility organelle biogenesis protein folding and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct