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Rabbit Anti-MCPH1 Recombinant Antibody (CBFYM-1920) (CBMAB-M2094-FY)


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Summary

Host Animal
Rabbit
Specificity
Human, Mouse, Rat, Monkey
Clone
CBFYM-1920
Antibody Isotype
IgG
Application
WB

Basic Information

Specificity
Human, Mouse, Rat, Monkey
Antibody Isotype
IgG
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Introduction
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.
Entrez Gene ID
Human79648
Mouse244329
Rat306594
Monkey106999655
UniProt ID
HumanQ8NEM0
MouseQ7TT79
RatD3ZJM7
MonkeyA0A5F8A030
Alternative Names
Microcephalin 1; BRCT-Repeat Inhibitor Of TERT Expression 1; Microcephaly, Primary Autosomal Recessive 1; Truncated Microcephalin; Microcephalin; BRIT1; MCT
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.
Biological Process
Bone development Source: Ensembl
Cerebral cortex development Source: Ensembl
Establishment of mitotic spindle orientation Source: Ensembl
Mitotic cell cycle Source: GO_Central
Negative regulation of transcription by RNA polymerase II Source: BHF-UCL
Neuronal stem cell population maintenance Source: Ensembl
Protein localization to centrosome Source: Ensembl
Regulation of centrosome cycle Source: Ensembl
Regulation of chromosome condensation Source: Ensembl
Regulation of inflammatory response Source: Ensembl
Regulation of kinase activity Source: Ensembl
Cellular Location
Centrosome
Involvement in disease
Microcephaly 1, primary, autosomal recessive (MCPH1):
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.
More Infomation

Alsolami, M., Aboalola, D., Malibari, D., Alghamdi, T., Alshekhi, W., Jad, H., ... & Alsiary, R. A. (2023). The emerging role of MCPH1/BRIT1 in carcinogenesis. Frontiers in Oncology, 13, 230.

Wang, Y., Zong, W., Sun, W., Chen, C., Wang, Z. Q., & Li, T. (2022). The central domain of MCPH1 controls development of the cerebral cortex and gonads in mice. Cells, 11(17), 2715.

Caraffi, S. G., Pollazzon, M., Farooq, M., Fatima, A., Larsen, L. A., Zuntini, R., ... & Garavelli, L. (2022). MCPH1: A Novel Case Report and a Review of the Literature. Genes, 13(4), 634.

Kristofova, M., Ori, A., & Wang, Z. Q. (2022). Multifaceted microcephaly-related gene MCPH1. Cells, 11(2), 275.

Khan, N. M., Masoud, M. S., Baig, S. M., Qasim, M., & Chang, J. (2022). Identification of Pathogenic Mutations in Primary Microcephaly-(MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families. BioMed Research International, 2022.

Houlard, M., Cutts, E. E., Shamim, M. S., Godwin, J., Weisz, D., Aiden, A. P., ... & Nasmyth, K. (2021). MCPH1 inhibits Condensin II during interphase by regulating its SMC2-Kleisin interface. Elife, 10, e73348.

Liu, X., Schneble-Löhnert, N., Kristofova, M., Qing, X., Labisch, J., Hofmann, S., ... & Wang, Z. Q. (2021). The N-terminal BRCT domain determines MCPH1 function in brain development and fertility. Cell Death & Disease, 12(2), 143.

Kristofova, M., & Wang, Z. Q. (2021). MCPH1, beyond its role deciding the brain size. Aging (Albany NY), 13(20), 23437.

Journiac, N., Gilabert-Juan, J., Cipriani, S., Benit, P., Liu, X., Jacquier, S., ... & Nardelli, J. (2020). Cell metabolic alterations due to Mcph1 mutation in microcephaly. Cell Reports, 31(2).

Shi, L., Luo, X., Jiang, J., Chen, Y., Liu, C., Hu, T., ... & Su, B. (2019). Transgenic rhesus monkeys carrying the human MCPH1 gene copies show human-like neoteny of brain development. National Science Review, 6(3), 480-493.

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For research use only. Not intended for any clinical use.

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