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

Gene: RB1-DT

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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Description of this Gene:

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rs387906521 in RB1;RB1-DT gene and Neoplastic Syndromes, Hereditary PMID 1673287 1991 Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene.

PMID 10023315 1998 Age at diagnosis to discriminate those patients for whom constitutional DNA sequencing is appropriate in sporadic unilateral retinoblastoma.

PMID 24225018 2014 Spectrum of RB1 mutations identified in 403 retinoblastoma patients.

PMID 2748600 1989 Structure of the human retinoblastoma gene.

PMID 20447117 2010 Role of genetic testing in retinoblastoma management at a tertiary referral centre.

PMID 1881452 1991 Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene.

rs1131690852 in RB1;RB1-DT gene and Retinoblastoma PMID 12541220 2003 Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

PMID 26539030 2015 Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.