DISEASES

Disease-gene associations mined from literature

Literature associating SERPINB6 and amelogenesis imperfecta type 3

SERPINB6 [ENSP00000484343]

Serpin peptidase inhibitor, clade B (ovalbumin), member 6; May be involved in the regulation of serine proteinases present in the brain or extravasated from the blood (By similarity). Inhibitor of cathepsin G, kallikrein-8 and thrombin. May play an important role in the inner ear in the protection against leakage of lysosomal content during stress and loss of this protection results in cell death and sensorineural hearing loss; Deafness associated genes

Synonyms:  SERPINB6,  A0A024QZX3,  A0A024QZX5,  P35237,  Q8IXH2 ...

Linkouts:  STRING  Pharos  UniProt