connexin-47; gap junction alpha-12 protein; Cx47; connexin-46.6; Cx46.6 (GJA12, GJC2)

Function

• connexin, a gap junction protein
• role in myelination in central & peripheral nervous systems
• interacts with TJP1

Expression

• expressed in central nervous system & in peripheral nervous system, including sciatic nerve & sural nerve
• detected in skeletal muscle

Pathology

• defects in GJA12 are a cause of Pelizaeus-Merzbacher-like disease

More general terms

• connexin (gap-junction protein)
• phosphoprotein

Database

• OMIM: https://mirror.omim.org/entry/608803
• OMIM: https://mirror.omim.org/entry/608804
• UniProt: http://www.uniprot.org/uniprot/Q5T442.html