Involvement in disease
Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome); Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC); Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); Split-hand/foot malformation 4 (SHFM4); Limb-mammary syndrome (LMS); Ectodermal dysplasia, Rapp-Hodgkin type (EDRH); Non-syndromic orofacial cleft 8 (OFC8)
Tissue Specificity
Widely expressed, notably in heart, kidney, placenta, prostate, skeletal muscle, testis and thymus, although the precise isoform varies according to tissue type. Progenitor cell layers of skin, breast, eye and prostate express high levels of DeltaN-type i