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CDC73 - cell division cycle 73
- Synonym(s) : FIHP, Paf1/RNA polymerase II complex component, parafibromin
- Previous symbols and names : 'cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)', C1orf28, Cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae), Familial isolated hyperparathyroidism, HRPT1, HRPT2, chromosome 1 open reading frame 28, hyperparathyroidism 1, hyperparathyroidism 2 (with jaw tumor)
- Type : gene with protein product
- Chromosomal location : 1q31.2
- OMIM: 607393
- HGNC: 16783
- UniProtKB: Q6P1J9
- Genatlas: CDC73
- GenCC: CDC73
- Ensembl: ENSG00000134371
- IUPHAR-DB: -
- Reactome: Q6P1J9
- LOVD: CDC73
Diseases list
- Disease-causing germline mutation(s) in Familial isolated hyperparathyroidism
ORPHA:99879 - Disease-causing germline mutation(s) (gain of function) in Hyperparathyroidism-jaw tumor syndrome
ORPHA:99880 - Disease-causing somatic mutation(s) in Parathyroid carcinoma
ORPHA:143

Additional information
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