Version 2.80

Descriptions

The SGSH gene is located on 17q25.3 and encodes N-sulphoglucosamine sulphohydrolase, a lysosomal enzyme that contributes to the lysosomal degradation of heparan sulfate. A mutation in the SGSH gene is associated with mucopolysaccharidosis type IIIA (MPSIIIA), also known as Sanfilippo syndrome A. MPSIIIA is characterized by severe central nervous system degeneration, and clinical symptoms usually become apparent between ages 2 and 6, with progressive neurologic degeneration between 6 and 10 years of age and death by age 30. [OMIM: 252900] Source: Regenstrief LOINC , OMIM: 252900

The SGSH gene (N-sulfoglucosamine sulfohydrolase) [HGNC Gene ID:10818] is located on chromosome 17q25.3. This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6448] 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
SGSH gene
Part Display Name
SGSH gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2006-12-12
Construct for LOINC Short Name
SGSH gene

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CodeSystem lookup
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Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) SGSH 基因
Synonyms: HSS;Human N-sulphoglucosamine sulphohydrolase mRNA, complete cds;MPS3A;N-sulfoglucosamine sulfohydrolase (sulfamidase);N-硫酸氨基葡糖-6-硫酸水解酶 (硫酸铵酶);N-硫酸氨基葡糖-6-硫酸水解酶 (磺酰胺酶);N-硫酸氨基葡萄糖-6-硫酸水解酶 (硫酸铵酶);N-硫酸氨基葡萄糖-6-硫酸水解酶 (磺酰胺酶);N-硫酸葡糖胺-6-硫酸水解酶 (硫酸铵酶);N-硫酸葡糖胺-6-硫酸水解酶
es-ES Spanish (Spain) Gen SGSH
it-IT Italian (Italy) SGSH, gene
Synonyms: Gene SGSH
et-EE Estonian (Estonia) SGSH geen
tr-TR Turkish (Turkey) SGSH geni
ru-RU Russian (Russian Federation) SGSH ген
nl-NL Dutch (Netherlands) SGSH-gen
Synonyms: SGSH gen
el-GR Greek (Greece) Γονίδιο SGSH
Synonyms: Γονίδιο SGSH