| PLPBP | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | PLPBP, PROSC | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 604436 MGI: 1891207 HomoloGene: 5211 GeneCards: PLPBP | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Proline synthetase co-transcribed bacterial homolog protein is a protein that in humans is encoded by the PROSC gene.[4]
Clinical significance
Mutations of the PROSC gene cause early-onset vitamin B6-dependent epilepsy (EPVB6D), a disease first described in 2016.
References
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031485 - 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: PROSC proline synthetase co-transcribed homolog (bacterial)".
Further reading
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
- Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
- Ikegawa S, Isomura M, Koshizuka Y, Nakamura Y (1999). "Cloning and characterization of human and mouse PROSC (proline synthetase co-transcribed) genes". J. Hum. Genet. 44 (5): 337–42. doi:10.1007/s100380050172. PMID 10496079.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
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