LP265701-5
GNA11 gene
Active
Description
The GNA11 (G protein subunit alpha 11) gene [HGNC Gene ID:4379] is located on chromosome 19 at 19p13.3. The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations.[provided by RefSeq, Dec 2013] [NCBI Gene ID:2767] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Display Name
- GNA11 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2018-01-05
- Construct for LOINC Short Name
- GNA11 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP265701-5
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
it-IT | Italian (Italy) | GNA11, gene Synonyms: Gene GNA11 |
es-ES | Spanish (Spain) | Gen GNA11 |
zh-CN | Chinese (China) | GNA11 基因 |
nl-NL | Dutch (Netherlands) | GNA11-gen |
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