Protein tyrosine phosphatase which may play a role in the regulation of lymphangiogenesis.
Expressed in a variety of human tissues including kidney, skeletal muscle, lung and placenta.
Involvement in disease
Defects in PTPN14 are a cause of choanal atresia and lymphedema (CHATLY) [MIM:613611]. A disease characterized by posterior choanal atresia and lymphedema. Additional features are a high-arched palate, hypoplastic nipples, and mild pectus excavatum. Note=A homozygous deletion in PTPN14 predicted to result in frameshift and premature truncation, has been shown to be the cause of choanal atresia and lymphedema in one family.
Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily. Contains 1 FERM domain. Contains 1 tyrosine-protein phosphatase domain.
Phosphorylated upon DNA damage, probably by ATM or ATR.