Cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae), also known as CDC73 and parafibromin, is a
protein which in humans is encoded by the CDC73
gene.
Function
Parafibromin,
LEO1,
PAF1, and
CTR9 form the PAF protein complex, which associates with the
RNA polymerase II subunit
POLR2A and with a
histone methyltransferase
Histone methyltransferases (HMT) are histone-modifying enzymes (e.g., histone-lysine N-methyltransferases and histone-arginine N-methyltransferases), that catalyze the transfer of one, two, or three methyl groups to lysine and arginine residues of ...
complex.
Clinical significance
Mutations in the CDC73 gene are associated with hyperparathyroidism-jaw tumor syndrome (
HPT-JT)
and
parathyroid carcinomas.
See also
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Primary hyperparathyroidism
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Osteitis fibrosa cystica
References
External links
GeneReviews/NCBI/NIH/UW entry on CDC73-Related Disorders
Further reading
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