Dymeclin

From Anvita Health Wiki

Contents 1 Function 2 Compartment 3 Expression 4 Pathology 5 More General Terms 6 Internet Database 7 References

Function

• role in intracellular digestion of proteins
• role in proteoglycan metabolism

Compartment

• membrane

Expression

• widely expressed
• abundant in chondrocytes & fetal brain

Pathology

• defects in DYM are the cause of Dyggve-Melchior-Clausen syndrome
• defects in DYM are the cause of Smith-McCort dysplasia

More General Terms

• glycoprotein
• membrane protein

Internet Database

OMIM: 223800
OMIM: 607326
OMIM: 607461
UniProt: [1]

References

UniProt [2]

dymeclin (Dyggve-Melchior-Clausen syndrome protein, DYM)