NODAL Modulator 3 (NOMO3)

NOMO3 encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a duplicated region on the short arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum. By sequence analysis, Loftus et al. (1999) mapped the PM5 gene to a region of chromosome 16p13.1-p11.2 that shows a high degree of gene duplication. Scott (2004) mapped 3 copies of the PM5 gene, including NOMO3, within this region. The NOMO3 gene maps centromeric to the XYLT1 gene and telomeric to the SMG1 gene.