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PLPBP
Identifiers
Aliases	PLPBP, PROSC
External IDs	OMIM: 604436; MGI: 1891207; HomoloGene: 5211; GeneCards: PLPBP; OMA:PLPBP - orthologs
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8|8 A2 Start 27,532,583 bp End 27,546,160 bp
RNA expression pattern Bgee Human Mouse (ortholog) n/a Top expressed in gastrula saccule left lobe of liver proximal tubule decidua otic placode right kidney human kidney temporal muscle digastric muscle BioGPS More reference expression data
Gene ontology Molecular function pyridoxal phosphate binding Cellular component cytoplasm intracellular anatomical structure Biological process biological process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 11212 114863 Ensembl ENSG00000147471 ENSMUSG00000031485 UniProt O94903 Q9Z2Y8 RefSeq (mRNA) NM_007198 NM_001039077 NM_001039078 NM_054057 NM_001363479 RefSeq (protein) NP_009129 NP_001336275 NP_001336276 NP_001336277 NP_001336278 NP_001034166 NP_001034167 NP_473398 NP_001350408 Location (UCSC) n/a Chr 8: 27.53 – 27.55 Mb PubMed search
Wikidata
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Proline synthetase co-transcribed bacterial homolog protein is a protein that in humans is encoded by the PROSC gene.

Clinical significance

Mutations of the PROSC gene cause early-onset vitamin B6-dependent epilepsy (EPVB6D), a disease first described in 2016.

References

1. ^ GRCm38: Ensembl release 89: ENSMUSG00000031485 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "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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