Extracellular Matrix Protein Fras1

From Anvita Health Wiki

Contents 1 Structure 2 Compartment 3 Alternative-splicing 4 Expression 5 Pathology 6 More General Terms 7 Internet Database 8 References

Structure

• belongs to the FRAS1 family
• contains 5 Calx-beta domains

• conformational shift upon Ca+2 binding contains 12 CSPG repeats ( NG2 repeats) contains 14 FU repeats ( furin-like repeats) contains 6 VWFC domains

Compartment

• membrane

Alternative-splicing

• named isoforms=6

Expression

• expressed kidney, pancreas, thalamus > fetal kidney, heart

Pathology

• defects in FRAS1 are a cause of Fraser syndrome

More General Terms

• Ca+2 binding protein
• membrane protein
• glycoprotein

Internet Database

OMIM: 219000
OMIM: 607830
Prosite: [1]
Prosite: [2]
UniProt: [3]

References

1. UniProt [4]
2. GeneReviews [5]

extracellular matrix protein FRAS1 (FRAS1, KIAA1500)