CDC73

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

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 complex.

Clinical significance

Mutations in the CDC73 gene are associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid carcinomas.

See also

• Primary hyperparathyroidism
• Osteitis fibrosa cystica

External links

• GeneReviews/NCBI/NIH/UW entry on CDC73-Related Disorders

Further reading

• Szabó J, Heath B, Hill VM, et al. (1995). "Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31". Am. J. Hum. Genet. 56 (4): 944–50. PMC 1801214. PMID 7717405.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Sood R, Bonner TI, Makalowska I, et al. (2001). "Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus". Genomics. 73 (2): 211–22. doi:10.1006/geno.2001.6500. PMID 11318611.
• Hobbs MR, Rosen IB, Jackson CE (2002). "Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2". Am. J. Hum. Genet. 70 (5): 1376–7. doi:10.1086/340093. PMC 447614. PMID 11951180.
• Carpten JD, Robbins CM, Villablanca A, et al. (2003). "HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome". Nat. Genet. 32 (4): 676–80. doi:10.1038/ng1048. PMID 12434154.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Howell VM, Haven CJ, Kahnoski K, et al. (2003). "HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours". J. Med. Genet. 40 (9): 657–63. doi:10.1136/jmg.40.9.657. PMC 1735580. PMID 12960210.
• Shattuck TM, Välimäki S, Obara T, et al. (2003). "Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma". N. Engl. J. Med. 349 (18): 1722–9. doi:10.1056/NEJMoa031237. PMID 14585940.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Simonds WF, Robbins CM, Agarwal SK, et al. (2004). "Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome". J. Clin. Endocrinol. Metab. 89 (1): 96–102. doi:10.1210/jc.2003-030675. PMID 14715834.
• Warner J, Epstein M, Sweet A, et al. (2004). "Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications". J. Med. Genet. 41 (3): 155–60. doi:10.1136/jmg.2003.016725. PMC 1735699. PMID 14985373.
• Villablanca A, Calender A, Forsberg L, et al. (2004). "Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP)". J. Med. Genet. 41 (3): e32. doi:10.1136/jmg.2003.012369. PMC 1735713. PMID 14985403.
• Teh BT, Howell VM, Haven CJ, et al. (2004). "Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome". Hum. Genet. 114 (2): 221. doi:10.1007/s00439-003-1060-z. PMID 15046050.
• Teh BT, Howell VM, Haven CJ, et al. (2004). "Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome". Hum. Genet. 114 (2): 222. doi:10.1007/s00439-003-1060-z. PMID 15046094.
• Teh BT, Howell VM, Haven CJ, et al. (2004). "Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome". Hum. Genet. 114 (2): 222. doi:10.1007/s00439-003-1060-z. PMID 15046098.
• Teh BT, Howell VM, Haven CJ, et al. (2004). "Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome". Hum. Genet. 114 (2): 223. doi:10.1007/s00439-003-1060-z. PMID 15046102.
• Teh BT, Howell VM, Haven CJ, et al. (2004). "Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome". Hum. Genet. 114 (2): 223. doi:10.1007/s00439-003-1060-z. PMID 15046105.
• Teh BT, Howell VM, Haven CJ, et al. (2004). "Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome". Hum. Genet. 114 (2): 223. doi:10.1007/s00439-003-1060-z. PMID 15046107.
• Teh BT, Howell VM, Haven CJ, et al. (2004). "Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome". Hum. Genet. 114 (2): 224. doi:10.1007/s00439-003-1060-z. PMID 15046109.