LP33211-1
ARSA gene
Active
Descriptions
The ARSA gene is located on chromosome 22q13.33 and encodes the lysosomal enzyme arylsulfatase A, which hydrolyzes cerebroside sulfate to cerebroside and sulfate. ARSA mutations cause metachromatic leukodystrophy (MLD), a progressive demyelinating disease that in its late infantile form is associated with neurodegeneration, motor rigidity, seizures, and death by age 5. The juvenile and adult forms of MLD typically have a more variable and less severe course. [OMIM: 250100] Source: Regenstrief LOINC, OMIM: 250100
The ARSA gene (arylsulfatase A) [HGNC Gene ID:713] is located on chromosome 22q13.33. The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010] [NCBI Gene ID:410] 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
- ARSA gene
- Part Display Name
- ARSA gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-02-18
- Construct for LOINC Short Name
- ARSA gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | ARSA 基因 Synonyms: ASA 基因; |
| et-EE | Estonian (Estonia) | ARSA geen |
| es-ES | Spanish (Spain) | Gen ARSA |
| it-IT | Italian (Italy) | ARSA, gene Synonyms: Gene ARSA |
| tr-TR | Turkish (Turkey) | ARSA geni |
| ru-RU | Russian (Russian Federation) | ARSA ген |
| nl-NL | Dutch (Netherlands) | ARSA-gen Synonyms: ARSA gen |
| fr-FR | French (France) | ARSA gène |
| pl-PL | Polish (Poland) | ARSA gen Synonyms: Gen ARSA |
| el-GR | Greek (Greece) | Γονίδιο ARSA Synonyms: Γονίδιο ARSA |
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://