C10orf2

OMIMHGNC

Synonym(s): PEO, PEO1, TWINKLE, FLJ21832, TWINL, IOSCA

Locus: 10q24

Protein: C10orf2 protein

 

Disorders

Tests

Test Type Method Laboratory
C10orf2-related mitochondrial DNA depletion syndrome test◦ Molecular
◦ Sequencing, Capillary
◦ Mutation Scanning of Entire Coding Region
Medical Genetics Center, Asian Medical Center - Seoul, Korea, Republic of