From en.wikipedia.org:
[Protein-coding gene in the species Homo sapiens] [Infobox_gene]
PRICKLE PLANAR CELL POLARITY PROTEIN 1 is a protein that in humans is encoded
by the PRICKLE1 gene. [1]
** Function
This gene encodes a nuclear receptor that may be a negative regulator of the
Wnt/beta-catenin signaling pathway. The encoded protein localizes to the
nuclear membrane and has been implicated in the nuclear trafficking of the
transcription repressors REST/NRSF and REST4. Mutations in this gene have
been linked to progressive myoclonus epilepsy. Alternate splicing results in
multiple transcript variants. A pseudogene of this gene is found on
chromosome 3.
** References
[reflist]
** Further reading
[ 2]
- [vauthors=Katoh M, Katoh M ]
- [vauthors=Jenny A, Darken RS, Wilson PA, Mlodzik M ]
- [vauthors=Shimojo M, Hersh LB ]
- [vauthors=Kim SM, Yang JW, Park MJ, Lee JK, Kim SU, Lee YS, Lee MA ]
- [vauthors=Chan DW, Chan CY, Yam JW, Ching YP, Ng IO ]
- [vauthors=Greco SJ, Smirnov SV, Murthy RG, Rameshwar P ]
- [vauthors=Bassuk AG, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti HI ]
- [vauthors=Perry JR, McCarthy MI, Hattersley AT, Zeggini E, Weedon MN, Frayling TM ]
- [vauthors=Wheeler HE, Metter EJ, Tanaka T, Absher D, Higgins J, Zahn JM, Wilhelmy J, Davis RW, Singleton A, Myers RM, Ferrucci L, Kim SK ]
[refend]
[gene-12-stub] [NLM content]