parafibromin; hyperparathyroidism 2 protein; cell division cycle protein 73 homolog (CDC73, C1orf28, HRPT2)

Function

• tumor suppressor
• role in transcriptional & posttranscriptional control pathways
• cell cycle progression via the regulation of cyclin D1/PRAD1 expression
• part of the PAF1 complex
• interacts with:
  • RNA polymerase 2 large subunit (RPB1)
  • Set1-like complex that has histone methyltransferase activity & methylates histone H3

Expression

adrenal & parathyroid glands, kidney & heart

Pathology

• defects in CDC73 are a cause familial hyperparathyroidism types 1 & 2

More general terms

• nuclear protein

Additional terms

• hyperparathyroidism

Database

• OMIM: https://mirror.omim.org/entry/607393
• OMIM: https://mirror.omim.org/entry/145000
• OMIM: https://mirror.omim.org/entry/145001
• UniProt: http://www.uniprot.org/uniprot/Q6P1J9.html