PLPBP gene

pyridoxal phosphate binding protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a pyridoxal 5'-phosphate binding protein involved in the homeostatic regulation of intracellular pyridoxal 5'-phosphate. This gene has a tumor suppressive effect on hepatocellular carcinoma and other solid tumors of epithelial origin. Naturally occurring mutations in this gene are associated with a pyridoxine-dependent epilepsy. [provided by RefSeq, Mar 2017]

From UniProt:

May be involved in intracellular homeostatic regulation of pyridoxal 5'-phosphate (PLP), the active form of vitamin B6.

From NCBI Gene:

  • EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT

From UniProt:

Epilepsy, early-onset, vitamin B6-dependent (EPVB6D): An autosomal recessive neurologic disorder characterized by seizures responsive to treatment with activated vitamin B6 and/or pyridoxine. Most patients show delayed psychomotor development, mental retardation and learning disability. Seizures onset is in the first days or months of life. [MIM:617290]

Cytogenetic Location: 8p11.23, which is the short (p) arm of chromosome 8 at position 11.23

Molecular Location: base pairs 37,761,753 to 37,779,768 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8p11.23, which is the short (p) arm of chromosome 8 at position 11.23
  • EPVB6D
  • PROSC