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Literature summary for 2.3.1.250 extracted from

  • Wang, X.; Reid Sutton, V.; Omar Peraza-Llanes, J.; Yu, Z.; Rosetta, R.; Kou, Y.C.; Eble, T.N.; Patel, A.; Thaller, C.; Fang, P.; Van den Veyver, I.B.
    Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia (2007), Nat. Genet., 39, 836-838.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
gene PORCN, DNA and amino acid sequence determination and analysis, genotyping Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information identification of enzyme mutants with a 219-kb deletion in Xp11.23, heterozygous and mosaic mutations in gene PORCN, genotyping, overview Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
endoplasmic reticulum
-
Homo sapiens 5783
-

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9H237 gene PORCN
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Synonyms

Synonyms Comment Organism
PORCN
-
Homo sapiens
protein-serine O-palmitoleoyltransferase porcupine UniProt Homo sapiens

General Information

General Information Comment Organism
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 Homo sapiens
physiological function the enzyme is involved in secretion of Wnt proteins Homo sapiens