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PROSC

From Wikipedia, the free encyclopedia
PLPBP
Identifiers
AliasesPLPBP, PROSC
External IDsOMIM: 604436; MGI: 1891207; HomoloGene: 5211; GeneCards: PLPBP; OMA:PLPBP - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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/aChr 8: 27.53 – 27.55 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

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

Clinical significance

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

References

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  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031485Ensembl, 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

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