HYAL1 Chromosome 3
Hyaluronidase 1
Upload your DNA to see your personal genotypes for variants in HYAL1.
What This Gene Does
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]
Gene Info
Gene Group
Hyaluronidases
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000114378
Associated Conditions (2)
Deficiency of hyaluronoglucosaminidase
HYAL1-related disorder
Key Variants
RS147106267
Conflicting classifications of pathogenicity
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
Health Risk
RS368957453
Conflicting classifications of pathogenicity
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
Health Risk
RS369935445
Conflicting classifications of pathogenicity
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
Health Risk
RS374928005
Conflicting classifications of pathogenicity
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
Health Risk
RS377105091
Conflicting classifications of pathogenicity
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
Health Risk
RS587680396
Conflicting classifications of pathogenicity
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
Health Risk
RS781838448
Conflicting classifications of pathogenicity
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
Health Risk
RS781849333
Conflicting classifications of pathogenicity
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
Health Risk
RS781924536
Conflicting classifications of pathogenicity
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
Health Risk
RS782094366
Conflicting classifications of pathogenicity
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
Health Risk
RS782279681
Conflicting classifications of pathogenicity
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
Health Risk
RS782355058
Conflicting classifications of pathogenicity
Deficiency of hyaluronoglucosaminidase, HYAL1-related disorder, Deficiency of hyaluronoglucosaminidase
Health Risk
All Variants (48)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147106267 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS368957453 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS369935445 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS374928005 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS377105091 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS587680396 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS781838448 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS781849333 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS781924536 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS782094366 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS782279681 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS782355058 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hyaluronoglucosaminidase, HYAL1-related disorder, Deficiency of hyaluronoglucosaminidase |
| RS782751421 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470849538 | Health Risk | Likely pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS1346505806 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS1450097579 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS1553713075 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS1553713128 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS1553713167 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS1553713200 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS1553713469 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS1575517577 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS1702200130 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS1702209367 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS1702209886 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2109304251 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2109307152 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2109307739 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2109309063 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470850104 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470850582 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470850881 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470851514 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470851637 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470851875 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470852095 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470852170 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470852349 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470853311 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS782190610 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS782240278 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS782351974 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS782636282 | Health Risk | Pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS1386542234 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS1702197212 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS1702201097 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS781974681 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS782271243 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |