Medical Definition of Microcephalin 1

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Microcephalin 1: Mutation of this gene is responsible for an autosomal recessive form of primary microcephaly with no other malformations. Microcephalin 1 (MCPH1) is expressed in fetal brain in the developing forebrain and the walls of the lateral ventricles. Cells in this region divide to produce neurons that migrate to form the cerebral cortex. The MCPH1 gene is on chromosome 8 in region 8p23.

Reviewed on 9/7/2018

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