基因名称(Gene Name)
ATCAY KIAA1872
免疫原
Synthesized peptide derived from human ATCAY AA range: 69-119
特异性
This antibody detects endogenous levels of ATCAY at Human/Mouse/Rat
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 neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008],
功能
disease:Defects in ATCAY are the cause of cerebellar ataxia, cayman type (ATCAY) [MIM:601238]. ATCAY is found in a population isolate on Grand Cayman Island and causes a marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Hypotonia is present from early childhood.,domain:The CRAL-TRIO domain is known to bind small hydrophobic molecules.,similarity:Contains 1 CRAL-TRIO domain.,
