Anti-MCPH1 Antibody

$99.00$319.00

Reactivity: Human
Applications: ELISA,WB,IHC
Conjugation: Various
Supplier: CUSABIO BIOTECH CO.

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Rabbit Anti-MCPH1 Antibody (CSB-PA839866DSR1HU)

Supplier: CUSABIO BIOTECH CO.

Alternative names:

MCPH1 Antibody

More alternative names for the antibody
BRCT repeat inhibitor of TERT expression 1 antibody|BRIT 1 antibody|FLJ12847 antibody|Hypothetical protein FLJ12847 antibody|MCPH 1 antibody|MCPH1 antibody|MCPH1_HUMAN antibody|MCT antibody|Microcephalin 1 antibody|Microcephalin antibody|Microcephaly primary autosomal recessive 1 antibody
Anti-BRIT1 antibody (ab2612)
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Recommended applications: ELISA, WB, IHC

Recommended dilution: Recommended dilution:WB:1:500-2000,IHC:1:20-1:200

Recommended protocols: check protocols

Name

Anti-MCPH1 Antibody

Catalogue No.

CSB-PA839866DSR1HU

Reactivity

Human

Immunogen

Recombinant human Microcephalin protein (536-835AA)

Host

Rabbit

Applications

ELISA, WB, IHC

Recommended dilution

Recommended dilution:WB:1:500-2000,IHC:1:20-1:200

Clonality

Polyclonal

Conjugation

unconjugated

Isotype

IgG

Molecular weight

92 kDa

Purification

Antigen Affinity Purified

Storage

Shipped at 4 Celcius Degree. Upon delivery aliquot and store at -20 Celcius Degree or -80 Celcius Degree. Avoid repeated freeze.

Database links

Entrez Gene:79648( Human), Entrez Gene:244329( Mouse), Omim:607117( Human), SwissProt:Q8NEM0( Human), SwissProt:Q7TT79( Mouse), Unigene:656769( Human), Unigene:708770( Human), Unigene:721952( Human), Unigene:235296( Mouse)

Protein 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. .

Protein tissue specificity

Expressed in fetal brain, liver and kidney. .

Involvement in disease

Microcephaly 1, primary, autosomal recessive (MCPH1) [MIM:251200]: A disease 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. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. Some MCHP1 patients also present growth retardation, short stature, and misregulated chromosome condensation as indicated by a high number of prophase-like cells detected in routine cytogenetic preparations and poor-quality metaphase G-banding. . Note=The disease is caused by mutations affecting the gene represented in this entry.

Protein sequence and domain

BRCT domain 1 is required to prevent abnormal chromosome condensation. It binds directly to the SWI-SNF chromatin remodeling complex (PubMed:19925808).; BRCT domains 2 and 3 recognize phosphoserine/phosphothreonine marks on proteins with high selectivity, and mediate interaction with phosphorylated CDC27. They also mediate the dual recognition of phosphoserine and phosphotyrosine in the C-terminal tail of histone H2AFX (PubMed:22139841, PubMed:22908299 and PubMed:22908299).

Protein cellular localization

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome .

Note

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Supplier

CUSABIO BIOTECH CO.

Product type

Primary antibody

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