Preferred Label : CDC73 wt Allele;
NCIt synonyms : HRPT2; Hyperparathyroidism 2 (with Jaw Tumor) Gene; Hyperparathyroidism 1 Gene; FLJ23316; HPT-JT; C1orf28; Parafibromin Gene; HRPT2 wt Allele; HRPT1; Cell Division Cycle 73 wt Allele; HPTJT; Cell Division Cycle Protein 73, S. cerevisiae, Homolog of Gene; HYX; FIHP; Paf1/RNA Polymerase II Complex Component Gene; Familial Isolated Hyperparathyroidism Gene; Hyrax, Drosophila, Homolog of Gene; Cell Division Cycle 73, Paf1/RNA Polymerase II Complex Component, Homolog (S. cerevisiae)
Gene;
NCIt definition : Human CDC73 wild-type allele is located in the vicinity of 1q25 and is approximately
132 kb in length. This allele, which encodes parafibromin protein, plays a role in
the modulation of both RNA polymerase II-directed transcription and histone methylation.
Hyperparathyroidism-jaw tumor syndrome is associated with mutations that result in
truncation of this gene.;
NCIt note : The CDC73 gene product functions as a tumor suppressor, using transcriptional and
post-transcriptional pathways, to regulate the G1/S-specific expression of the CCND1
gene, which is involved in cell cycle progression (GeneCards).;
GenBank Accession Number : NM_024529;
Origin ID : C54289;
UMLS CUI : C1704980;
OMIM relation
- See also inter- (CISMeF)
- Semantic type(s)
- gene_found_in_organism
- gene_has_abnormality
- gene_in_chromosomal_location
- gene_involved_in_pathogenesis_of_disease
- gene_plays_role_in_process
