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

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

Database

• OMIM: https://mirror.omim.org/entry/223800
• OMIM: https://mirror.omim.org/entry/607326
• OMIM: https://mirror.omim.org/entry/607461
• UniProt: http://www.uniprot.org/uniprot/Q7RTS9.html