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Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED)

while others have a non-functional allele due to the presence of an early stop codon and a 3' end deletion

Alternative splicing of this PEG3 gene results in multiple transcript variants encoding distinct isoforms

Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors

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