SERPINF1

Chr 17AR

serpin family F member 1

Also known as: EPC-1, OI12, OI6, PEDF, PIG35

NCBI Gene: 5176 ENSG00000132386 OMIM: 172860

The protein is a secreted neurotrophic factor that promotes neuronal differentiation and potently inhibits angiogenesis, functioning as a non-inhibitory member of the serpin family. Mutations cause osteogenesis imperfecta type VI, which follows autosomal recessive inheritance and primarily affects bone formation and mineralization. The gene is highly intolerant to loss-of-function variants, indicating that complete protein loss is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

ARLOEUF 1.211 OMIM phenotype

Clinical Summary— SERPINF1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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Clinical Trials

3 active or recruiting trials — potential therapeutic options may be available

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