Identity
HGNC
LOCATION
Xp11.23
LOCUSID
ALIAS
DHOF,FODH,MG61,PORC,PPN
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 64840
MIM: 300651
HGNC: 17652
Ensembl: ENSG00000102312
Variants:
dbSNP: 64840
ClinVar: 64840
TCGA: ENSG00000102312
COSMIC: PORCN
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37812478 | 2024 | Inhibition of PORCN Blocks Wnt Signaling to Attenuate Progression of Oral Carcinogenesis. | 1 |
| 37812478 | 2024 | Inhibition of PORCN Blocks Wnt Signaling to Attenuate Progression of Oral Carcinogenesis. | 1 |
| 36215026 | 2023 | Suppression of Wnt/β-Catenin Signaling Is Associated with Downregulation of Wnt1, PORCN, and Rspo2 in Alzheimer's Disease. | 3 |
| 36880456 | 2023 | A novel large deletion mutation involving the PORCN gene in a Chinese patient with focal dermal hypoplasia and literature review. | 1 |
| 36215026 | 2023 | Suppression of Wnt/β-Catenin Signaling Is Associated with Downregulation of Wnt1, PORCN, and Rspo2 in Alzheimer's Disease. | 3 |
| 36880456 | 2023 | A novel large deletion mutation involving the PORCN gene in a Chinese patient with focal dermal hypoplasia and literature review. | 1 |
| 34962003 | 2022 | Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations. | 0 |
| 35005837 | 2022 | A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia. | 0 |
| 35831507 | 2022 | Mechanisms and inhibition of Porcupine-mediated Wnt acylation. | 25 |
| 34962003 | 2022 | Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations. | 0 |
| 35005837 | 2022 | A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia. | 0 |
| 35831507 | 2022 | Mechanisms and inhibition of Porcupine-mediated Wnt acylation. | 25 |
| 33111437 | 2021 | Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner. | 0 |
| 33557041 | 2021 | De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family. | 4 |
| 34015469 | 2021 | Responses of Porcupine and Wntless proteins to oxidative, hypoxic and endoplasmic reticulum stresses. | 2 |
Citation
Dessen P
PORCN (porcupine O-acyltransferase)
Atlas Genet Cytogenet Oncol Haematol. 2008-07-01
Online version: http://atlasgeneticsoncology.org/gene/50270/porcn-(porcupine-o-acyltransferase)
