Version 2.78

Description

The ASPA gene (aspartoacylase) [HGNC Gene ID:756] is located on chromosome 17p13.3. This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:443] 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 Display Name
ASPA gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
ASPA gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19503-9
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19503-9

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) ASPA 基因
Synonyms: ACY2;ACY-2;Asp;Canavan 氏病;Canavan 病;加纳万病;嘉拿芬病;天冬氨酸酰化酶基因;氨酰化酶 2;氨酰基化酶 2;氨酰基转移酶 2;白质海绵状变性病
et-EE Estonian (Estonia) ASPA geen
es-ES Spanish (Spain) Gen ASPA
it-IT Italian (Italy) ASPA, gene
Synonyms: Gene ASPA
tr-TR Turkish (Turkey) ASPA geni
ru-RU Russian (Russian Federation) ASPA ген
nl-NL Dutch (Netherlands) ASPA-gen
Synonyms: ASPA gen