Fras1 Related Extracellular Matrix Protein 2

From Anvita Health Wiki

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

Function

• extracellular matrix protein
• maintenance of skin epithelium
• maintenance of renal epithelia
• role in epidermal adhesion
• Calx-beta domains bind Ca+2 inducing a conformational shift

Structure

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

• contains 12 CSPG repeats ( NG2 repeats)

Compartment

• membrane

Alternative-splicing

• named isoforms=2

Pathology

• defects in FREM2 are a cause of Fraser syndrome

More General Terms

• matrix protein
• membrane protein
• Ca+2 binding protein

Internet Database

OMIM: 219000
OMIM: 608945
UniProt: [1]

References

1. UniProt [2]
2. GeneReviews [3]

FRAS1-related extracellular matrix protein 2 (ECM3 homolog, FREM2)