ST14
MIM.606797 11q24-q25
ST14 gene encodes type II transmembrane serine protease matriptase.
Pathology
germline mutation in autosomal recessive ichthyosis with hypotrichosis (MIM.610765)
References
Basel-Vanagaite L, Attia R, Ishida-Yamamoto A, Rainshtein L, Ben Amitai D, Lurie R, Pasmanik-Chor M, Indelman M, Zvulunov A, Saban S, Magal N, Sprecher E, Shohat M. Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. Am J Hum Genet. 2007 Mar;80(3):467-77. PMID: #17273967#