Version 2.78

Description

The HYAL1 gene (hyaluronoglucosaminidase 1) [HGNC Gene ID:5320] is located on chromosome 3p21.31. This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3373] 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
HYAL1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2004-02-11
Construct for LOINC Short Name
HYAL1 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP33151-9
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP33151-9

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) HYAL1 基因
Synonyms: FUS2;LUCA1;MGC45987;NAT6;玻璃酸酶 1 基因;粘朊酶 1 基因;肿瘤抑制因子 LUCA-1;透明质酸葡萄糖胺酸酶 1 基因;透明质酸酶 1 基因
et-EE Estonian (Estonia) HYAL1 geen
es-ES Spanish (Spain) Gen HYAL1
it-IT Italian (Italy) HYAL1, gene
Synonyms: Gene HYAL1
tr-TR Turkish (Turkey) HYAL1 geni
ru-RU Russian (Russian Federation) HYAL1 ген
nl-NL Dutch (Netherlands) HYAL1-gen
Synonyms: HYAL1 gen