PLPBP
Identifiers
AliasesPLPBP, PROSC
External IDsOMIM: 604436 MGI: 1891207 HomoloGene: 5211 GeneCards: PLPBP
Orthologs
SpeciesHumanMouse
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/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

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

References

  1. 1 2 3 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


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