Gene Symbol | HABP2 |
Entrez Gene ID | 3026 |
Full Name | hyaluronan binding protein 2 |
Synonyms | FSAP,HABP,HGFAL,NMTC5,PHBP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]. |
Disorder MIM: | |
Disorder Html: | {?Thyroid cancer, nonmedullary, 5}, 616535 (3); {Venous thromboembolism, susceptibility to}, 188050 (3) |