Prickle planar cell polarity protein 2
Prickle planar cell polarity protein 2 is a protein that in humans is encoded by the PRICKLE2 gene. [5]
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| Aliases | PRICKLE2, EPM5, prickle planar cell polarity protein 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608501 MGI: 1925144 HomoloGene: 17889 GeneCards: PRICKLE2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5. [provided by RefSeq, Dec 2011].
References
- GRCh38: Ensembl release 89: ENSG00000163637 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000030020 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: Prickle planar cell polarity protein 2". Retrieved 2018-02-20.
Further reading
- Katoh M, Katoh M (February 2003). "Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle". Int. J. Mol. Med. 11 (2): 249–56. doi:10.3892/ijmm.11.2.249. PMID 12525887.
- Daulat AM, Luu O, Sing A, Zhang L, Wrana JL, McNeill H, Winklbauer R, Angers S (January 2012). "Mink1 regulates β-catenin-independent Wnt signaling via Prickle phosphorylation". Mol. Cell. Biol. 32 (1): 173–85. doi:10.1128/MCB.06320-11. PMC 3255712. PMID 22037766.
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