产品名称
Microcephalin Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=79648
Human Swissprot No.
Q8NEM0
Human Swissprot Link
http://www.uniprot.org/uniprotkb/Q8NEM0/entry
Mouse Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=244329
Mouse Swissprot No.
Q7TT79
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q7TT79
免疫原
The antiserum was produced against synthesized peptide derived from human MCPH1. AA range:91-140
特异性
Microcephalin Polyclonal Antibody detects endogenous levels of Microcephalin protein.
稀释度
WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:40000.. IF 1:50-200
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Expressed in fetal brain, liver and kidney.
细胞定位
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome .
功能
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 microcephaly is further defined by the absence of other syndromic features or significant neurological deficits. This entity is inherited as autosomal recessive trait.,function:Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex.,miscellaneous:MCPH1 deficient cells exhibit a delay in post-mitotic chromosome decondensation.,online information:A grey matter - Issue 64 of November 2005,similarity:Contains 3 BRCT domains.,tissue specificity:Expressed in fetal brain, liver and kidney.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
