NCIt definition : Human SKI wild-type allele is located within 1p36.33-p36.32 and is approximately 83
kb in length. This allele, which encodes ski oncogene protein, is involved in neural
tube development and muscle differentiation. Mutations in the gene are associated
with Shprintzen-Goldberg syndrome and chromosomal deletions involving this gene locus
may be associated with congenital fiber-type disproportion myopathy and dilated cardiomyopathy.
Aberrant elevated expression of the gene may play a role in tumorigenesis.;