Home > A. Molecular pathology > CDSN
CDSN
MIM.602593 6p21.3
Monday 13 December 2004
Definition: Corneodesmosin (CDSN) is a rotein of corneodesmosomes.
Corneodesmosomes are intercellular structures that are involved in desquamation, the shedding of superficial corneocytes from the skin surface.
Corneocytes are anucleated cells derived from keratinocytes during the late stages of terminal differentiation of cornified squamous epithelia such as the epidermis.
Pathology
germline mutations of CDSN in
- hypotrichosis simplex of the scalp (MIM.146520)
- peeling skin syndrome
- PSS is caused by homozygous mutation in the corneodesmosin gene (CDSN; MIM.602593) on chromosome 6p21.3.
