PROSC

Proline synthetase co-transcribed bacterial homolog protein is a protein that in humans is encoded by the PROSC gene.^[4]

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)[1] Band 8|8 A2 Start 27,532,583 bp[1] End 27,546,160 bp[1]
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 [2] [3]
Wikidata
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Clinical significance

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