Version 2.78

Description

The RB1 gene (retinoblastoma 1) [HGNC Gene ID:9884] is located on chromosome 13q14.2. 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. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5925] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Name
RB1 gene
Part Display Name
RB1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
RB1 gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19761-3
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19761-3

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) RB1 基因
Synonyms: RB;成松果体细胞瘤;成视网膜细胞瘤 1;眼癌(有遗传性);视网膜母细胞瘤 1;视网膜神经胶质瘤 1;骨肉瘤
et-EE Estonian (Estonia) RB1 geen
es-ES Spanish (Spain) Gen RB1
it-IT Italian (Italy) RB1, gene
Synonyms: Gene RB1
tr-TR Turkish (Turkey) RB1 geni
ru-RU Russian (Russian Federation) RB1 ген
nl-NL Dutch (Netherlands) RB1-gen
Synonyms: RB1 gen