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Article

Multifaceted Microcephaly-Related Gene MCPH1.

Cells - 14 Jan 2022

Kristofova Martina, Ori Alessandro, Wang Zhao-Qi

Abstract excerpt

MCPH1, or BRIT1, is often mutated in human primary microcephaly type 1, a neurodevelopmental disorder characterized by a smaller brain size at birth, due to its dysfunction in regulating the proliferation and self-renewal of neuroprogenitor cells. In the last 20 years or so, genetic and cellular studies have identified MCPH1 as a multifaceted protein in various cellular functions, including DNA damage signaling...

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Identifiers

PMID: 35053391
DOI: 10.3390/cells11020275
PMCID: PMC8774270

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