Gene Symbol | PORCN |
Entrez Gene ID | 64840 |
Full Name | porcupine O-acyltransferase |
Synonyms | DHOF,FODH,MG61,PORC,PPN |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the porcupine family encode endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine proteins are involved in the processing of Wnt (wingless and int homologue) proteins. Disruption of this gene is associated with focal dermal hypoplasia, and the encoded protein has been implicated in cancer. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2013]. |
Disorder MIM: | |
Disorder Html: | Focal dermal hypoplasia, 305600 (3) |