Ontology highlight
ABSTRACT:
SUBMITTER: Racz P
PROVIDER: S-EPMC2744200 | biostudies-literature | 2009 Mar
REPOSITORIES: biostudies-literature
Racz Peter P Mink Matyas M Ordas Anita A Cao Tongyu T Szalma Sandor S Szauter Kornelia M KM Csiszar Katalin K
Experimental dermatology 20081022 3
We have recently reported a mutation within the conserved immunoglobulin V-type domain of the predicted adhesion protein Mpzl3 (MIM 611707) in rough coat (rc) mice with severe skin abnormalities and progressive cyclic hair loss. In this study, we tested the hypothesis that the human orthologue MPZL3 on chromosome 11q23.3 is a candidate for similar symptoms in humans. The predicted conserved MPZL3 protein has two transmembrane motifs flanking an extracellular Ig-like domain. The R100Q rc mutation ...[more]