CMT1A Duplicated Region Transcript Protein 1 (CDRT1)

HREP; SM25H2; C17orf1; C17orf1A

CMT1A Duplicated Region Transcript Protein 1 (CDRT1)
Misalignment of CMT1A-REP elements on chromosome 17p11.2 causes 2 peripheral neuropathies, Charcot-Marie-Tooth disease type 1a and hereditary neuropathy with liability to pressure palsies . CDRT1 encodes a 252-amino acid protein with no transmembrane domains and only 1 potential N-glycosylation site. Northern blot analysis revealed expression of a 3.2-kb transcript in skeletal muscle and heart .
C17ORF1A and COX10 are oriented in opposite directions and transcribed from opposite strands, with exon 6 of C17ORF1A and a duplicated exon 6 ('pseudo-exon') of COX10 juxtaposed on the strands. The authors stated that the presence of these expressed genes may explain the maintenance of a disease-causing binary repeat within the human genome.

Organism species: Homo sapiens (Human)