[Update on autosomal recessive primary microcephaly (MCPH)-associated proteins]
Yu-Jie Wang1, Xiao-Kun Zhou1, Dan Xu1
1College of Biological Science and Engineering, Fuzhou University, Fuzhou 350108, China.
Yi Chuan = Hereditas
|October 19, 2019
Summary
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder caused by mutations in 25 genes. This review details MCPH proteins, aiding understanding of brain disorder causes.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Brain development diseases impact the central nervous system.
- Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder defined by reduced brain size and intellectual disability.
Purpose of the Study:
- To review the known 25 genes associated with MCPH.
- To consolidate information on MCPH proteins, including their functions and roles in disease pathogenesis.
Main Methods:
- Literature review of studies on MCPH genes and proteins.
- Compilation of data on gene expression, protein localization, molecular functions, phenotypes, and animal models.
Main Results:
- Identified 25 genes (MCPH1-25) linked to MCPH.
- MCPH proteins are crucial regulators of brain development signaling pathways.
Conclusions:
- Understanding MCPH proteins is key to deciphering the molecular and cellular basis of brain disorders.
- This review provides a comprehensive resource for MCPH research.
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