CMT1A duplicated region transcript 1 protein (CDRT1, C17orf1, C17orf1A, HREP)

Structure

contains 4 WD repeats

Expression

• expressed in pancreas, heart & skeletal muscle

Genetics

• CDRT1 gene is located centromeric to & partially within proximal CMT1A-REP element
• CMT1A-REP is a complex binary repeat element flanking a 1.5-Mb DNA region duplicated in Charcot-Marie-Tooth disease-1 (CMT1A) or deleted in hereditary neuropathy (HNPP)

More general terms

• WD repeat protein family

Database

• OMIM: https://mirror.omim.org/entry/604596
• UniProt: http://www.uniprot.org/uniprot/O95170.html