DISEASES

Disease-gene associations mined from literature

Literature associating SERPIND1 and Noonan syndrome with multiple lentigines 2

SERPIND1 [ENSP00000215727]

Serpin peptidase inhibitor, clade D (heparin cofactor), member 1; Thrombin inhibitor activated by the glycosaminoglycans, heparin or dermatan sulfate. In the presence of the latter, HC-II becomes the predominant thrombin inhibitor in place of antithrombin III (AT-III). Also inhibits chymotrypsin, but in a glycosaminoglycan-independent manner; Belongs to the serpin family.

Synonyms:  SERPIND1,  P05546,  SERPIND1-001,  SERPIND1-002,  HCF2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM