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

Function: 1) role in intracellular digestion of proteins 2) 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

General

glycoprotein membrane protein

Properties

SIZE: MW = 76 kD entity length = 669 aa COMPARTMENT: cellular membrane MOTIF: transmembrane domain {246-266} N-glycosylation site {N282} N-glycosylation site {N293} N-glycosylation site {N411} N-glycosylation site {N421} N-glycosylation site {N450} N-glycosylation site {N469} transmembrane domain {638-658}

Database Correlations

OMIM correlations MORBIDMAP 607461 UniProt Q7RTS9

References

UniProt :accession Q7RTS9