基因名称(Gene Name)
WASH6P CXYorf1 FAM39A
免疫原
Synthesized peptide derived from human WASH6 AA range: 181-231
特异性
This antibody detects endogenous levels of WASH6 at Human
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013],
功能
disease:Defects in RAB23 are the cause of Carpenter syndrome [MIM:201000]; also known as acrocephalopolysyndactyly type 2 (ACPS2). Carpenter syndrome is characterized by craniosynostosis, polysyndactyly, obesity, and cardiac defects. Inheritance is autosomal recessive.,similarity:Belongs to the small GTPase superfamily. Rab family.,
