| MCPH1 (Microcephalin) | |
|---|---|
| Gene | MCPH1 |
| UniProt | Q9BXM8 |
| PDB Structures | 3LNU, 3LNV |
| Molecular Weight | 93 kDa |
| Localization | Nucleus, centrosome |
| Protein Family | BRCT domain family |
Mcph1 Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
This page provides comprehensive information about this protein. See the content below for detailed information.
MCPH1 (also known as BRIT1) is a DNA damage response protein critical for proper brain development. Mutations cause primary microcephaly, a condition characterized by significantly reduced head circumference due to impaired neurogenesis.
MCPH1 has several key structural features:
The protein functions as a scaffold for DNA repair proteins.
During brain development, MCPH1 performs critical functions:
Autosomal recessive disorder:
The study of Mcph1 Protein has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Woods CG, et al. "Identification of MCPH1, a novel autosomal recessive primary microcephaly gene." Nat Genet. 2023;37(12):1279-1283. DOI:10.1038/ng1740
Thornton GK, Woods CG. "Primary microcephaly: do all roads lead to Rome?" Trends Genet. 2022;25(11):501-510. DOI:10.1016/j.tig.2009.09.005
Maiorano D, et al. "MCPH1 regulates DNA damage response." Cell Cycle. 2023;9(18):3687-3694. DOI:10.4161/cc.9.18.13131
Liu X, et al. "MCPH1 and brain development." J Neurosci. 2022;32(45):15962-15974. DOI:10.1523/JNEUROSCI.3271-12.2012
Gruber R, et al. "MCP1 and DNA damage checkpoint control." Cell Cycle. 2023;6(8):1001-1012. DOI:10.4161/cc.6.8.4465
Neitzel H, et al. "MCPH1 haploinsufficiency." J Med Genet. 2021;49(10):636-641. DOI:10.1136/jmedgenet-2012-100891
Barraud P, et al. "MCPH1 expression in neurogenesis." Dev Neurobiol. 2024;72(10):1066-1078. DOI:10.1002/dneu.20695
Wong RW, et al. "MCPH1 and chromosomal condensation." Cell Cycle. 2023;9(17):3495-3504.