Gene Symbol | SERPINF1 |
Entrez Gene ID | 5176 |
Full Name | serpin family F member 1 |
Synonyms | EPC-1,OI12,OI6,PEDF,PIG35 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016]. |
Disorder MIM: | |
Disorder Html: | Osteogenesis imperfecta, type VI, 613982 (3) |