Gene: LOC101929160

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: CDC73

Alternate names for this Gene: C1orf28|FIHP|HPTJT|HRPT1|HRPT2|HYX

Gene Summary: This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma.

Gene is located in Chromosome: 1

Location in Chromosome : 1q31.2

Description of this Gene: cell division cycle 73

Type of Gene: protein-coding

rs1060500015 in LOC101929160;CDC73 gene and HYPERPARATHYROIDISM 1 PMID 18755853 2008 Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism.

PMID 12960210 2003 HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours.

PMID 16487440 2006 Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

PMID 15632063 2005 The parafibromin tumor suppressor protein is part of a human Paf1 complex.

PMID 12434154 2002 HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.

rs1558276054 in LOC101929160;CDC73 gene and Parathyroid Gland Adenocarcinoma PMID 17314275 2007 Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function.