SERPINF1

serpin family F member 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a member of the serpin family, although it does not display the serine protease inhibitory activity shown by many of the other serpin family members. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells.[provided by RefSeq, Mar 2011]

From UniProt:

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.

From NCBI Gene:

  • Osteogenesis imperfecta type 12

From UniProt:

Osteogenesis imperfecta 6 (OI6): A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI6 is a severe, autosomal recessive form compatible with OI type III in the Sillence classification. [MIM:613982]

Cytogenetic Location: 17p13.3, which is the short (p) arm of chromosome 17 at position 13.3

Molecular Location: base pairs 1,761,965 to 1,777,565 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17p13.3, which is the short (p) arm of chromosome 17 at position 13.3
  • EPC-1
  • OI6
  • OI12
  • PEDF
  • PIG35