Immunogen
Synthesized peptide derived from human PSPHL AA range: 21-71
Specificity
This antibody detects endogenous levels of PSPHL at Human
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
IHC-p 1:50-200. IF 1:50-200
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
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],
Function
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.,
Gene Name
PSPHP1 CO9 PSPHL
Human protein sequence Database
O15172
Mouse protein sequence database
Rat protein sequence database
Tissue expression
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.