PLPBP - pyridoxal phosphate binding protein Gene

Homo sapiens

Also known as PROSC; EPVB6D

Gene ID: 11212 | Gene type: protein coding

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

Bioactive Molecules (1)

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

Name
Email *

	Sorry, but the email address you supplied was invalid.