Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport.

Emil Karl GustavssonJordan FollettMatthew J FarrerJan O Aasly

Published in: Muscle & nerve (2019)

MCM3AP encodes germinal center-associated nuclear protein (GANP), a protein involved in the export of certain messenger RNAs from the nucleus to the cytoplasm. Our findings suggest that a novel mutation in MCM3AP is associated with hypokalemic PP. Muscle Nerve, 2019.

Keyphrases

transcription factor
binding protein
protein protein
amino acid
copy number
gene expression
genome wide identification
dna methylation