CST6
Function
High affinity inhibitor for cathepsin L, cathepsin L2 (cathepsin V), and legumain (PubMed:30425301). Involved in the regulation of epidermal cornification, and hair follicle morphogenesis and maintenance (PubMed:30425301).
Involvement in disease
Ectodermal dysplasia 15, hypohidrotic/hair type
ECTD15
A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD15 is an autosomal recessive form characterized by hypotrichosis and absence of sweating except with extreme exercise. Skin is dry from birth and eczematous lesions may develop in adulthood. Other features include blepharitis and photophobia.
None
The disease may be caused by variants affecting the gene represented in this entry.
Post-translational modifications
Substrate for transglutaminases. Acts as an acyl acceptor but not as an acyl donor.
Sequence Similarities
Belongs to the cystatin family.
Tissue Specificity
Restricted to the stratum granulosum of normal skin, the stratum granulosum/spinosum of psoriatic skin, and the secretory coils of eccrine sweat glands. Low expression levels are found in the nasal cavity.
Cellular localization
- Secreted
Alternative names
Cystatin-M, Cystatin-6, Cystatin-E, CST6