| Modification Notes |
Extracellular matrix protein FRAS1 is a 4007 amino acid protein belonging to the FRAS1 family. Expressed in many adult tissues, FRAS1 has the highest levels of expression in kidney, pancreas, thalamus, fetal kidney and fetal heart. FRAS1 contains 5 Calx-beta domains, which bind calcium with high affinity and undergo a major conformational shift upon binding. Additionally, it contains 12 CSPG (NG2) repeats, 14 FU (furin-like) repeats and 6 VWFC domains. Mutations in the gene encoding FRAS1 cause Fraser syndrome, a multisystem malformation usually comprising cryptophthalmos, cutaneous syndactyly, ear abnormalities, renal agenesis and congenital heart defects. Five named isoforms of FRAS1 exist as a result of alternative splicing events. |