Aliases for SERPINF1 Gene
External Ids for SERPINF1 Gene
Previous HGNC Symbols for SERPINF1 Gene
Previous GeneCards Identifiers for SERPINF1 Gene
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]
GeneCards Summary for SERPINF1 Gene
SERPINF1 (Serpin Family F Member 1) is a Protein Coding gene. Diseases associated with SERPINF1 include Osteogenesis Imperfecta, Type Vi and Brittle Bone Disorder. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINF2.
UniProtKB/Swiss-Prot Summary for SERPINF1 Gene
Neurotrophic protein; induces extensive neuronal differentiation in retinoblastoma cells. Potent inhibitor of angiogenesis. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity.