Entrez Summary: This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte maturation. This gene is highly polymorphic in human populations, and variation has been associated with skin diseases such as psoriasis, hypotrichosis and peeling skin syndrome. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. [provided by RefSeq, Dec 2014].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
corneocyte desquamation
regulation of cornification
negative regulation of cornification
corneocyte development
delamination
negative regulation of keratinocyte differentiation
skin morphogenesis
keratinocyte development
negative regulation of epidermal cell differentiation
negative regulation of epidermis development
desmosome
negative regulation of epithelial cell differentiation
regulation of keratinocyte differentiation
regulation of epidermal cell differentiation
cornified envelope
regulation of epidermis development
cornification
regulation of epithelial cell differentiation
cell-cell junction
negative regulation of cell-cell adhesion
epithelial cell development
keratinization
negative regulation of cell adhesion
keratinocyte differentiation
epidermal cell differentiation
skin development
regulation of cell-cell adhesion
epidermis development
cell-cell adhesion
epithelial cell differentiation
regulation of cell adhesion
negative regulation of cell differentiation
protein homodimerization activity
negative regulation of programmed cell death
cell adhesion
biological adhesion
negative regulation of developmental process
animal organ morphogenesis
negative regulation of cell death
programmed cell death
cell death
epithelium development
negative regulation of multicellular organismal process
regulation of programmed cell death
cell development
regulation of cell death
tissue development
regulation of cell differentiation
extracellular region
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)