present in Gene: HYAL1
present in Chromosome: 3
Position on Chromosome: 50302155
Alleles of this Variant: C/T
rs104893743 in
HYAL1 gene and
Hyaluronidase Deficiency
PMID 10339581 1999 Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX.