KNL1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human KNL1 wild-type allele is located in the vicinity of 15q15.1 and is approximately 70 kb in length. This allele, which encodes kinetochore scaffold 1 protein, plays a role in both signaling in mitosis and chromosome alignment. The gene is involved in a translocation t(11;15)(q23;q14) with the KMT2A (MLL) gene that is associated with acute myeloblastic leukemia. Mutations in this gene are associated with autosomal recessive primary microcephaly 4.

**Synonyms:** - AF15Q14 - AF15q14 - ALL1-Fused Gene from Chromosome 15q14 - Blinkin, Bub-Linking Kinetochore Protein Gene - CASC5 - CT29 - Cancer Susceptibility Candidate 5 Gene - Cancer/Testis Antigen 29 Gene - D40 - KIAA1570 - Kinetochore Null 1 Homolog (C. elegans) Gene - Kinetochore Scaffold 1 wt Allele - MCPH4 - Microcephaly, Primary Autosomal Recessive 4 Gene - PPP1R55 - Protein Phosphatase 1, Regulatory Subunit 55 Gene - Spc7 - hKNL-1 - hSpc105