免疫原
Synthesized peptide derived from human PSPHL AA range: 21-71
特异性
This antibody detects endogenous levels of PSPHL at Human
来源
Polyclonal, Rabbit,IgG
组成（Formulation）
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
稀释比例
IHC-p 1：50-200. IF 1:50-200
纯化工艺（Immunogen）
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
背景（Background）
This gene is significantly upregulated in Fanconi's anemia fibroblasts but downregulated or absent in fibroblasts from normal donors. It is also highly expressed in FA B-cells of complementation group A. [provided by RefSeq, Jul 2008],
功能
catalytic activity:O-phospho-L(or D)-serine + H(2)O = L(or D)-serine + phosphate.,cofactor:Magnesium.,disease:Defects in PSPH are the cause of 3-phosphoserine phosphatase deficiency (PSPHD)[MIM:172480]. Affected individuals have pre- and postnatal growth retardation, moderate psychomotor retardation and facial features suggestive of Williams syndrome.,function:Catalyzes the last step in the biosynthesis of serine from carbohydrates. The reaction mechanism proceeds via the formation of a phosphoryl-enzyme intermediates.,pathway:Amino-acid biosynthesis; L-serine biosynthesis; L-serine from 3-phospho-D-glyceric acid: step 3/3.,similarity:Belongs to the serB family.,subunit:Homodimer.,
基因名称（Gene Name）
PSPHP1 CO9 PSPHL
组织表达
Highly expressed in FA (Fanconi's anemia) B-cells of complementation group A and Raji cells. Not expressed in B-cells of other FA complementation groups.
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