Version 2.78

Description

The CLA2 gene (ATPase, Ca++ transporting, plasma membrane 3) gene is located on chromosome Xq28. The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] [NCBI Gene ID:492] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name
CLA2 gene
Part Display Name
CLA2 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2004-02-11
Construct for LOINC Short Name
CLA2 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP33153-5
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP33153-5

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) CLA2 基因
Synonyms: OPCA;小脑共济失调 (X-染色体连锁);小脑共济失调 (X-连锁);小脑性共济失调 2 (X-染色体连锁);小脑性共济失调 2 (X-连锁);小脑运动失调 (X-染色体连锁);小脑运动失调 (X-连锁)
et-EE Estonian (Estonia) CLA2 geen
es-ES Spanish (Spain) Gen CLA2
it-IT Italian (Italy) CLA2, gene
Synonyms: Gene CLA2
tr-TR Turkish (Turkey) CLA2 geni
ru-RU Russian (Russian Federation) CLA2 ген
nl-NL Dutch (Netherlands) CLA2-gen
Synonyms: CLA2 gen