Version 2.78

Description

The CBL (Cbl proto-oncogene) gene [HGNC Gene ID:1541] is located on chromosome 11 at 11q23.3 This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016] [NCBI Gene ID: 867] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Display Name
Fetal chromosome region 11q23
Part Type
Component (Describes the core component or analyte measured)
Created On
2019-05-14
Construct for LOINC Short Name
Chr 11q23

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP345007-1

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 胎儿染色体区域 11q23
Synonyms: 胎儿染色体区域（染色体部位、染色体区、染色体区带、染色体部） 11q23
it-IT Italian (Italy) Regione cromosomica 11q23
es-ES Spanish (Spain) Región 11q23 del cromosoma fetal
pl-PL Polish (Poland) Region chromosomowy 11q23 u płodu