Target：Microcephalin

Gene Name：MCPH1

Protein Name：Microcephalin

Human Gene Id：79648

Human Swiss Prot No：Q8NEM0

Mouse Gene Id：244329

Mouse Swiss Prot No：Q7TT79

Immunogen：The antiserum was produced against synthesized peptide derived from human MCPH1. AA range:91-140

Specificity：Microcephalin Polyclonal Antibody detects endogenous levels of Microcephalin protein.

Formulation：Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Source：Polyclonal, Rabbit,IgG

Dilution：WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:40000.. IF 1:50-200

Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration：1 mg/ml

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Other Name：MCPH1;Microcephalin

Observed Band(KD)：93kD

Background： This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010],

Function：disease:Defects in MCPH1 are a cause of premature chromosome condensation with microcephaly and mental retardation (PCC syndrome) [MIM:606858]. PCC syndrome is a disorder of microcephaly, short stature and misregulated chromosome condensation. Patients with this condition have a high number (10%-15%) of prophase-like cells in routine cytogenetic preparations and have poor-quality metaphase G-banding.,disease:Defects in MCPH1 are the cause of microcephaly primary type 1 (MCPH1) [MIM:251200]; also known as true microcephaly or microcephaly vera. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Primary microceph

Subcellular Location：Cytoplasm, cytoskeleton, microtubule organizing center, centrosome .

Expression：Expressed in fetal brain, liver and kidney.