MCPH1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human MCPH1 wild-type allele is located in the vicinity of 8p23.1 and is approximately 237 kb in length. This allele, which encodes microcephalin protein, is involved in both brain development and DNA damage checkpoints. Mutation of the gene is associated with primary, autosomal-recessive microcephaly 1.

**Synonyms:** - BRCT-Repeat Inhibitor of TERT Expression 1 Gene - BRIT1 - FLJ12847 - MCT - Microcephalin 1 wt Allele - Microcephaly, Primary Autosomal Recessive 1 Gene