PLPBP
entrez
11212
canonical
uniprot
O94903
canonical
ensembl
ENSG00000147471
resolver
ensp
ENSP00000333551
resolver
ensp
ENSP00000542331
resolver
enst
ENST00000328195
resolver
genesymbol
PLPBP
resolver
genesymbol_syn
PROSC
resolver
hgnc
HGNC:9457
resolver
uniprot
Q6FI94
resolver
uniprot_entry
PLPHP_HUMAN
resolver
uniprot_sec
Q6FI94
resolver
amino_acid_sequence
MWRAGSMSAELGVGCALRAVNERVQQAVARRPRDLPAIQPRLVAVSKTKPADMVIEAYGHGQRTFGENYVQELLEKASNPKILSLCPEIKWHFIGHLQKQNVNKLMAVPNLFMLETVDSVKLADKVNSSWQRKGSPERLKVMVQINTSGEESKHGLPPSETIAIVEHINAKCPNLEFVGLMTIGSFGHDLSQGPNPDFQLLLSLREELCKKLNIPADQVELSMGMSADFQHAVEVGSTNVRIGSTIFGERDYSKKPTPDKCAADVKAPLEVAQEH
uniprot
proteins
disease_involvement
DISEASE: Epilepsy, early-onset, 1, vitamin B6-dependent (EPEO1) [MIM:617290]: An autosomal recessive neurologic disorder characterized by seizures responsive to treatment with activated vitamin B6 and/or pyridoxine. Most patients show delayed psychomotor development, intellectual disability and learning disability. Seizures onset is in the first days or months of life. {ECO:0000269|PubMed:27912044}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Pyridoxal 5'-phosphate (PLP)-binding protein, which may be involved in intracellular homeostatic regulation of pyridoxal 5'-phosphate (PLP), the active form of vitamin B6. {ECO:0000255|HAMAP-Rule:MF_03225, ECO:0000269|PubMed:27912044}.
uniprot
proteins
mass_dalton
30344
uniprot
proteins
protein_family
Pyridoxal phosphate-binding protein YggS/PROSC family
uniprot
proteins
pubmed
10496079
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27912044
uniprot
proteins
sequence_length
275
uniprot
proteins