PLPBP (pyridoxal phosphate binding protein)

2017-09-01 Affiliation

HGNC

PLPBP

LOCATION

8p11.23

LOCUSID

11212

ALIAS

EPVB6D,PROSC

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

dbSNP: 11212
ClinVar: 11212
TCGA: ENSG00000147471
COSMIC: PLPBP

Not detected

Low

Medium

High

Pubmed ID	Year	Title	Citations
27912044	2016	Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B₆-Dependent Epilepsy.	24
28391250	2017	Confirmation of mutations in PROSC as a novel cause of vitamin B _₆ -dependent epilepsy.	15
28914444	2017	Studies on cyanobacterial protein PipY shed light on structure, potential functions, and vitamin B₆ -dependent epilepsy.	6

Dessen P

PLPBP (pyridoxal phosphate binding protein)

Atlas Genet Cytogenet Oncol Haematol. 2017-09-01