Description

The CNGB3 gene (cyclic nucleotide gated channel beta 3) [HGNC Gene ID:2153] is located on chromosome 8q21.3. This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010] [NCBI Gene ID:54714] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name
CNGB3 gene
Part Display Name
CNGB3 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-03-17
Construct for LOINC Short Name
CNGB3

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP208418-6

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)CNGB3 基因
Synonyms: 环核苷酸门控通道β3;CNG 通道β-3;环核苷酸门控通道 Beta 3;CNG 通道 Beta-3;全色盲 (视杆细胞单色色盲) 3;全色盲 (视杆细胞单色色盲) 1;Cyclic Nucleotide Gated Channel Beta 3;CNG Channel Beta-3;Achromatopsia (Rod Monochromacy) 3;Achromatopsia (Rod Monochromacy) 1;ACHM1
es-ESSpanish (Spain)Gen CNGB3
it-ITItalian (Italy)CNGB3, gene
Synonyms: Gene CNGB3
nl-NLDutch (Netherlands)CNGB3-gen
Synonyms: CNGB3 gen
fr-FRFrench (France)CNGB3 gène
pl-PLPolish (Poland)CNGB3 gen
Synonyms: Gen CNGB3
el-GRGreek (Greece)Γονίδιο CNGB3
Synonyms: Γονίδιο CNGB3