myomegalin (phosphodiesterase 4D-interacting protein, cardiomyopathy-associated protein 2, PDE4DIP, CMYA2, KIAA0454 KIAA0477, MMGL)

Function

• may function as an anchor sequestering components of cAMP-dependent pathway to Golgi &/or centrosomes
• interacts with PDE4D (putative)

Structure

contains 1 NBPF domain

Compartment

• Golgi, centrosome, cytoplasm, nucleus (putative)

Alternative splicing

named isoforms=12

Expression

• highly expressed in heart & skeletal muscle & to a lower extent in brain & placenta
• expressed in fetal heart

Pathology

• chromosomal translocation t(1;5)(q23;q33) involving PDE4DIP with PDGFRB may be the cause of a myeloproliferative disorder associated with eosinophilia translocation forms a PDE4DIP- PDGFRB fusion protein

More general terms

• uncharacterized protein

Database

• OMIM: https://mirror.omim.org/entry/608117
• UniProt: http://www.uniprot.org/uniprot/Q5VU43.html