LP186142-8
IDS gene
Active
Descriptions
The IDS gene is located on chromosome Xq28 and encodes iduronate 2-sulfatase, a lysososomal enzyme involved in glycosaminoglycan metabolism. IDS gene mutations are associated with mucopolysaccharidosis II (MPSII), also known as Hunter syndrome. Hunter syndrome is an X-linked disorder with severe and attenuated forms. The severe form is characterized by severe airway obstruction, skeletal deformities, cardiomyopathy, neurologic decline, and death by age 20, while the attenuated form is more variable and can be associated with a normal life expectancy. [OMIM: 309900] Source: Regenstrief LOINC, OMIM: 309900
The IDS gene (iduronate 2-sulfatase) [HGNC Gene ID:5389] is located on chromosome Xq28. The protein encoded by this gene belongs to the sulfatase family, is localized to the lysosome, and is involved in lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X-linked lysosomal storage disease, mucopolysaccharidosis type II, also known as Hunter syndrome. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 2013] [NCBI Gene ID:3423] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- IDS gene
- Part Display Name
- IDS gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2014-10-29
- Construct for LOINC Short Name
- IDS 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) | IDS 基因 Synonyms: 艾杜糖醛酸 2-硫酸酯酶; |
| es-ES | Spanish (Spain) | Gen IDS |
| it-IT | Italian (Italy) | IDS, gene Synonyms: Gene IDS |
| tr-TR | Turkish (Turkey) | IDS geni |
| nl-NL | Dutch (Netherlands) | IDS-gen Synonyms: IDS gen |
| fr-FR | French (France) | IDS gène |
| pl-PL | Polish (Poland) | IDS gen Synonyms: Gen IDS |
| el-GR | Greek (Greece) | Γονίδιο IDS Synonyms: Γονίδιο IDS |
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://