PORCN
| porcupine homolog (Drosophila) | |
|---|---|
| Identifiers | |
| Symbol | PORCN |
| Entrez | 64840 |
| HUGO | 17652 |
| OMIM | 300651 |
| RefSeq | NM_022825 |
| UniProt | Q9H237 |
| Other data | |
| Locus | Chr. X p11.23 |
PORCN (porcupine homolog – Drosophila) is a human gene.[1][2] The protein is homologous to other membrane-bound O-acyltransferases.
Function
The protein encoded by this gene an endoplasmic reticulum transmembrane protein involved in processing of wingless proteins such as WNT7A.[2]
Clinical significance
Mutations in this gene are associated with focal dermal hypoplasia.[3]
Mutations in PORCN are associated to Goltz-Gorlin syndrome .[4]
References
- ↑ Tanaka K, Okabayashi K, Asashima M, Perrimon N, Kadowaki T (July 2000). "The evolutionarily conserved porcupine gene family is involved in the processing of the Wnt family". Eur. J. Biochem. 267 (13): 4300–11. doi:10.1046/j.1432-1033.2000.01478.x. PMID 10866835.
- 1 2 Caricasole A, Ferraro T, Rimland JM, Terstappen GC (April 2002). "Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine". Gene. 288 (1–2): 147–57. doi:10.1016/S0378-1119(02)00467-5. PMID 12034504.
- ↑ Wang X, Reid Sutton V, Omar Peraza-Llanes J, et al. (July 2007). "Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia". Nat. Genet. 39 (7): 836–8. doi:10.1038/ng2057. PMID 17546030.
- ↑ Brady, P. D.; Van Esch, H; Fieremans, N; Froyen, G; Slavotinek, A; Deprest, J; Devriendt, K; Vermeesch, J. R. (2014). "Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia". European Journal of Human Genetics. 23: 551–4. doi:10.1038/ejhg.2014.135. PMID 25026905.
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