PLPBP - pyridoxal phosphate binding protein Gene

Also Known as PROSC; EPVB6D

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 11212

About PLPBP

Cytogenetic location: 8p11.23 Genomic coordinates (GRCh38): 8:37,762,546-37,779,768 (from NCBI)

This gene has 9 transcripts (splice variants), 222 orthologues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 12.8), colon (RPKM 10.6) and 25 other tissues.

Summary

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]

PLPBP Products (5)

mRNA	Protein	Name
NM_001349346.2	NP_001336275.1	pyridoxal phosphate homeostasis protein isoform 1
NM_001349347.2	NP_001336276.1	pyridoxal phosphate homeostasis protein isoform 3
NM_001349348.2	NP_001336277.1	pyridoxal phosphate homeostasis protein isoform 4
NM_001349349.1	NP_001336278.1	pyridoxal phosphate homeostasis protein isoform 5
NM_007198.4	NP_009129.1	pyridoxal phosphate homeostasis protein isoform 2

PLPBP Protein Structure

Ala_racemase_N

0
100
200
275 a.a.

Protein Preferred Names	Protein Names
pyridoxal phosphate homeostasis protein	PLP homeostasis protein

Related Diseases

Diseases	Alias
Epilepsy, Early-Onset, Vitamin B6-Dependent	EPVB6D Early-Onset Vitamin B6-Dependent Epilepsy
Epilepsy, Pyridoxine-Dependent	Pyridoxine-Dependent Epilepsy PDE Pyridoxine Dependency With Seizures Vitamin B6-Dependent Seizures EPD Aasa Dehydrogenase Deficiency Antiquitin Deficiency Pyridoxine Dependency Glutamate Decarboxylase Deficiency Pyridoxine-Dependent Seizures Deficiency Of Glutamate Decarboxylase
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Pnpo Deficiency Pyridoxamine 5'-Phosphate Oxidase Deficiency Pnpo-Related Neonatal Epileptic Encephalopathy Pyridoxal Phosphate-Responsive Seizures Pyridoxal 5'-Phosphate-Dependent Epilepsy Pyridoxine-5'-Phosphate Oxidase Deficiency PNPOD Seizures, Pyridoxine-Resistant, Plp-Sensitive Pyridoxal Phosphate-Dependent Seizures Pyridoxamine 5'-Oxidase Deficiency Epileptic Encephalopathy, Neonatal, Pnpo-Related Pyridox Ine 5'-Phosphate Oxidase Deficiency Deficiency, Pyridoxamine 5'-Phosphate Oxidase
Learning Disability	Learning Disabilities Learning Disorders Academic Skill Disorder Learning Disorder
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Hyperprolinemia, Type Ii	Hyperprolinemia Type 2 HYRPRO2 Hpii 1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency Hyperprolinemia Type Ii 1 Alpha Pyrroline-5-Carboxylate Dehydrogenase Deficiency Type 2 Hyperprolinemia Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency Hyperprolinemia 2
Developmental And Epileptic Encephalopathy 94	Epileptic Encephalopathy, Childhood-Onset Eeoc DEE94 Childhood Onset Epileptic Encephalopathy Encephalopathy, Epileptic, Childhood-Onset
Aromatic L-Amino Acid Decarboxylase Deficiency	Aadc Deficiency Dopa Decarboxylase Deficiency Ddc Deficiency Aromatic Amino Acid Decarboxylase Deficiency Deficiency Of Aromatic-L-Amino-Acid Decarboxylase AADCD Aromatic-L-Amino-Acid Decarboxylase Deficiency Aromatic L-Amino-Acid Decarboxylase Deficiency
Holocarboxylase Synthetase Deficiency	HLCS DEFICIENCY Early-Onset Multiple Carboxylase Deficiency Biotin- Ligase Deficiency Neonatal Multiple Carboxylase Deficiency Multiple Carboxylase Deficiency, Neonatal Form Multiple Carboxylase Deficiency, Early Onset Multiple Carboxylase Deficiency - Neonatal Onset Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Early-Onset Combined Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Biotin-Responsive Mcd Biotin-Responsive Multiple Carboxylase Deficiency Early-Onset Mcd Mcd Neonatal Form
Molybdenum Cofactor Deficiency	Combined Molybdoflavoprotein Enzyme Deficiency Mocod Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency Deficiency Of Molybdenum Cofactor Deficiency, Molybdenum Cofactor
Molybdenum Cofactor Deficiency, Complementation Group A	MOCODA Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A Molybdenum Cofactor Deficiency A Molybdenum Cofactor Deficiency Type A Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type A Mocod Type A Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase, Combined Deficiency Of Molybdenum Cofactor Deficiency Complementation Group A Molybdenum Cofactor Deficiency, Type A Deficiency, Molybdenum Cofactor, Complementation Group A
Glycine Encephalopathy	Non-Ketotic Hyperglycinemia Nonketotic Hyperglycinemia NKH GCE Hyperglycinemia, Nonketotic Hyperglycinemia Nonketotic Infantile Glycine Encephalopathy Encephalopathy, Glycine Glycine Synthase Deficiency Nka Neonatal Glycine Encephalopathy Classic Glycine Encephalopathy Neonatal Nkh Neonatal Non-Ketotic Hyperglycinemia Infantile Nkh Infantile Non-Ketotic Hyperglycinemia Non-Ketotic Hyperglycinaemia Glycine Cleavage Deficiency Nonketotic Hyperglycinaemia
Vitamin Metabolic Disorder
Hypophosphatasia	Phosphoethanolaminuria Childhood Hypophosphatasia Deficiency Of Alkaline Phosphatase Hypophospatasia, Childhood Hypophosphatasia Mild Phosphoethanol-Aminuria Rathburn Disease Hpp Rathbun Disease Hypophosphatasia, Childhood Infantile Hypophosphatasia
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10733	PLPBP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PLPBP	RGD	RGD:1308962
Felis catus	PLPBP	VGNC	VGNC:107414
Canis familiaris	PLPBP	VGNC	VGNC:106423
Bos taurus	PLPBP	VGNC	VGNC:33043
Mus musculus	PLPBP	MGD	MGI:1891207
Others	PLPBP	NCBI