C132190Level 5
PORCN wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human PORCN wild-type allele is located in the vicinity of Xp11.23 and is approximately 12 kb in length. This allele, which encodes protein-serine O-palmitoleoyltransferase porcupine protein, plays a role in post-translational modification of Wnt family proteins. Mutation of the gene is associated with focal dermal hypoplasia.
**Synonyms:** - DHOF - Dermal Hypoplasia, Focal Gene - FODH - MG61 - PORC - PPN - Porcupine Homolog (Drosophila) wt Allele - Porcupine, Drosophila, Homolog of Gene - por
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Cross-system equivalences0
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