EC Number   |
General Information |
Reference |
|---|
   2.3.1.250 | evolution |
Drosophila Porc has an extra hydrophilic N-terminal sequence, which is not found in other Porc enzymes |
733769 |
| 2.3.1.250 | evolution |
the enzyme belongs to the family of membrane-bound O-acyltransferases (MBOAT), which transfer acyl groups, such as a palmitoyl group, to substrates |
733695 |
| 2.3.1.250 | evolution |
the enzyme belongs to the membrane-bound O-acyltransferase family |
734745 |
| 2.3.1.250 | evolution |
the enzyme is a member of the membrane-bound O-acyl transferase (MBOAT) superfamily |
733873 |
| 2.3.1.250 | evolution |
the enzyme is a member of the membrane-bound O-acyltransferase family proteins |
734446 |
| 2.3.1.250 | malfunction |
compromised Porcn activity commonly results in developmental disorders including focal dermal hypoplasia (Goltz syndrome) whereas hyperactivity of Porcn is associated with cancerous cell growth. Enzyme inhibition by small molecule IWP inhibitors affect Wnt-dependent developmental processes including zebrafish posterior axis formation and kidney tubule formation |
734446 |
| 2.3.1.250 | malfunction |
enzyme mutation, with a 219-kb deletion in Xp11.23 in two affected females, causes focal dermal hypoplasia is an X-linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular and dental malformations |
734754 |
| 2.3.1.250 | malfunction |
gene deletion causes embryonic lethality in mice. PORCN null cells cannot activate WNT3A, PORCN null cells do not secrete WNT3A |
734194 |
| 2.3.1.250 | malfunction |
mutations in gene PORCN are associated with focal dermal hypoplasia. PORCN null cells are completely incapable of autocrine Wnt signaling |
734194 |
| 2.3.1.250 | malfunction |
the catalytically inactive porcupine is able to act as an inhibitor of endogenous porcupine, possibly via direct competition for substrate |
733699 |
