Myomegalin

From Anvita Health Wiki

Contents 1 Function 2 Structure 3 Compartment 4 Alternative-splicing 5 Expression 6 Pathology 7 More General Terms 8 Internet Database 9 References

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

Internet Database

OMIM: 608117
UniProt: [1]

References

1. UniProt [2]
2. Atlas of Genetics & Cytogenetics in Oncology & Haematology [3]

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