Defects in MCPH1 cause microcephaly primary type 1, also known as microcephaly or microcephaly vera, an autosomal recessive disease characterized by reduced head circumference, small cerebral cortex, and reduced brain weight. At the cellular level, MCPH1 is important to chromosome condensation and the DNA damage response.
Alternative names for
MCPH1 Antibody include Microcephalin antibody,
microcephalin 1 antibody,
BRCT-repeat inhibitor of TERT expression 1 antibody.