NOMO1

This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p 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 (PXE).

Full Name

nodal modulator 1

Function

Component of a ribosome-associated endoplasmic reticulum (ER) translocon complex involved in multi-pass membrane protein transport into the ER membrane and biogenesis (PubMed:32820719).
May antagonize Nodal signaling and subsequent organization of axial structures during mesodermal patterning, via its interaction with NCLN/Nicalin (By similarity).

Cellular Location

Endoplasmic reticulum membrane

Topology

Extracellular: 32-1155
Helical: 1156-1176
Cytoplasmic: 1177-1222