TUFT1
Function
Involved in the structural organization of the epidermis (PubMed:36689522). Involved in the mineralization and structural organization of enamel.
Involvement in disease
Woolly hair-skin fragility syndrome
WHSF
An autosomal recessive genodermatosis characterized by woolly hair texture with slow hair growth, and skin fragility present at birth or appearing in the neonatal period. Skin fragility then resolves or only persists as minor skin peeling, predominantly affecting the palms and soles.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the tuftelin family.
Tissue Specificity
Expressed in the epidermis (at protein level) (PubMed:36689522). Present in the extracellular enamel and is mainly associated with the crystal component.
Cellular localization
- Secreted
- Secreted at a very early stage of enamel formation, concentrated at the dentin-enamel junction and tightly bound to the surface of the growing crystallites.
Alternative names
Tuftelin, TUFT1