CDSN

Highest pathogenic variant AF is 0.00004233874

Gene type

protein_coding

Transcript type

protein_coding

Transcript

ENST00000376288

Coding exons

2

Length

5357

Individuals with no LoFs

125737

Homozygous LoFs

0

Heterozygous LoFs

9

Defined

125746

p

0.0000358

Function

FUNCTION: Important for the epidermal barrier integrity. {ECO:0000269|PubMed:20691404}.;

Disease

DISEASE: Hypotrichosis 2 (HYPT2) [MIM:146520]: A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. {ECO:0000269|PubMed:12754508}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Peeling skin syndrome 1 (PSS1) [MIM:270300]: A genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. {ECO:0000269|PubMed:20691404}. Note=The disease is caused by mutations affecting the gene represented in this entry. CDNS mutations are responsible for generalized, inflammatory peeling skin syndrome type B (PubMed:20691404). {ECO:0000269|PubMed:20691404}.;