LP71423-5
GAA gene
Active
Descriptions
The GAA gene is located on chromosome 17q25.3 and encodes acid alpha-1,4-glucosidase, a lysosomal enzyme involved in the degradation of glycogen. GAA mutations are associated with glycogen storage disease II, which in its infantile form is known as Pompe disease, an autosomal recessive disorder associated with hypotonia and cardiomyopathy. The juvenile and adult forms of glycogen storage disease II primarily affect skeletal muscle. [OMIM: 232300] Source: Regenstrief LOINC, OMIM: 232300
The GAA gene (glucosidase, alpha; acid) [HGNC Gene ID:4065] is located on chromosome 17q25.2-q25.3. This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2548] 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
- GAA gene
- Part Display Name
- GAA gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- GAA
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | GAA 基因 Synonyms: LYAG; |
| fr-CA | French (Canada) | Gène GAA |
| et-EE | Estonian (Estonia) | GAA geen |
| es-ES | Spanish (Spain) | Gen GAA |
| it-IT | Italian (Italy) | GAA, gene Synonyms: Gene GAA |
| tr-TR | Turkish (Turkey) | GAA geni |
| ru-RU | Russian (Russian Federation) | GAA ген |
| nl-NL | Dutch (Netherlands) | GAA-gen Synonyms: GAA gen |
| fr-BE | French (Belgium) | GAA gène |
| fr-FR | French (France) | GAA gène |
| pl-PL | Polish (Poland) | GAA gen Synonyms: Gen GAA |
| el-GR | Greek (Greece) | Γονίδιο GAA Synonyms: Γονίδιο GAA |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://