Gene: RB1-DT

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: RB1

Alternate names for this Gene: OSRC|PPP1R130|RB|p105-Rb|p110-RB1|pRb|pp110

Gene Summary: The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma.

Gene is located in Chromosome: 13

Location in Chromosome : 13q14.2

Description of this Gene: RB transcriptional corepressor 1

Type of Gene: protein-coding

rs1555279210 in RB1-DT;RB1 gene and Retinoblastoma PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.