FSTL1

Chr 3

follistatin like 1

Also known as: FRP, FSL1, OCC-1, OCC1, tsc36

NCBI Gene: 11167 ENSG00000163430 UniProt: Q12841 OMIM: 605547

The protein is a secreted glycoprotein that regulates angiogenesis, immune responses, and cell proliferation and differentiation, and plays important roles in central nervous system, skeletal, lung, and ureter development. Mutations cause autosomal dominant developmental disorders affecting multiple organ systems including the brain, skeleton, and other tissues. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to cause significant clinical effects.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein with similarity to follistatin, an activin-binding protein. It contains an FS module, a follistatin-like sequence containing 10 conserved cysteine residues. This gene product is thought to be an autoantigen associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 0.38

Clinical Summary— FSTL1

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.89) — some intolerance to loss-of-function variants.

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