DISEASES

Disease-gene associations mined from literature

Literature associating HYAL3 and mucopolysaccharidosis IX

HYAL3 [ENSP00000337425]

Hyaluronidase-3; Facilitates sperm penetration into the layer of cumulus cells surrounding the egg by digesting hyaluronic acid. Involved in induction of the acrosome reaction in the sperm. Involved in follicular atresia, the breakdown of immature ovarian follicles that are not selected to ovulate. Induces ovarian granulosa cell apoptosis, possibly via apoptotic signaling pathway involving CASP8 and CASP3 activation, and poly(ADP-ribose) polymerase (PARP) cleavage. Has no hyaluronidase activity in embryonic fibroblasts in vitro. Has no hyaluronidase activity in granulosa cells in vitro.

Synonyms:  HYAL3,  HYAL3p,  hHYAL3,  A0A024R2Y7,  C9JB51 ...

Linkouts:  STRING  Pharos  UniProt