KDF1
Function
Plays a role in the regulation of the epidermis formation during early development. Required both as an inhibitor of basal cell proliferation and a promoter of differentiation of basal progenitor cell progeny (By similarity).
Involvement in disease
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
ECTD12
A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD12 is an autosomal dominant, hypohidrotic form characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth, and the inability to sweat due to defective development of sweat glands.
None
The disease may be caused by variants affecting the gene represented in this entry.
Cellular localization
- Cytoplasm
- Cell junction
- Localized at cell borders in single layered keratinocytes. Localized at cell borders in the basal and spinous layers but is more diffusely localized in the granular layer. Colocalized with actin near the cell membrane, especially in cellular protrusions (By similarity).
Alternative names
C1orf172, KDF1, Keratinocyte differentiation factor 1