PDXK - pyridoxal kinase Gene

Also Known as PKH; PNK; HMSN6C; PRED79; C21orf97; HEL-S-1a; C21orf124

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8566

About PDXK

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:43,719,129-43,762,299 (from NCBI)

This gene has 19 transcripts (splice variants), 280 orthologues and is associated with 1 phenotype. Broad expression in testis (RPKM 24.7), fat (RPKM 18.6) and 25 other tissues.

Summary

The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

PDXK Products (2)

mRNA	Protein	Name
NM_001331030.2	NP_001317959.1	pyridoxal kinase isoform 2
NM_003681.5	NP_003672.1	pyridoxal kinase isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables ATP binding	IDA IDA: Inferred from direct assay	16600635	GOA
enables lithium ion binding	IDA IDA: Inferred from direct assay	9252787	GOA
enables magnesium ion binding	IDA IDA: Inferred from direct assay	17766369	GOA
enables potassium ion binding	IDA IDA: Inferred from direct assay	9252787	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	16600635	GOA
enables pyridoxal kinase activity	IDA IDA: Inferred from direct assay	9099727	GOA
enables pyridoxal kinase activity	IMP IMP: Inferred from mutant phenotype	31187503	GOA
enables pyridoxal phosphate binding	IDA IDA: Inferred from direct assay	16600635	GOA
enables sodium ion binding	IDA IDA: Inferred from direct assay	9252787	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	10987144	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in pyridoxal 5'-phosphate salvage	IDA IDA: Inferred from direct assay	9099727	GOA
involved in pyridoxal 5'-phosphate salvage	IMP IMP: Inferred from mutant phenotype	31187503	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PDXK Protein Structure

PfkB

0
100
200
312 a.a.

Protein Preferred Names	Protein Names
pyridoxal kinase	epididymis secretory sperm binding protein Li 1a

Recombinant PDXK Proteins

Cat. No.	Product Name	Accession	Purity
HY-P79342	Pyridoxal Kinase Protein, Human (GST)	O00764-1 (M1-L312)	≥ 95%, as determined by reducing SDS-PAGE.

PDXK Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83799	PDXK Antibody (YA3496)	WB, IHC-P, ICC/IF, FC	Human, Mouse
HY-P83799A	PDXK Antibody (YA3496)(PBS only)	WB, IHC-P, ICC/IF, FC	Human, Mouse

Related Diseases

Diseases	Alias
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	HMSN6C Hmsn Vic Cmt6c Charcot-Marie-Tooth Disease, Type 6c Neuropathy, Hereditary Motor And Sensory, 6c, With Optic Atrophy Charcot-Marie-Tooth Disease 6c Hereditary Motor And Sensory Neuropathy Type Vic Neuropathy, Hereditary Motor And Sensory, Type Vic
Polyneuropathy	Polyneuropathies
Epilepsy, Early-Onset, Vitamin B6-Dependent	EPVB6D Early-Onset Vitamin B6-Dependent Epilepsy
Cranio-Facial Dystonia	Craniofacial Dystonia
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
Down Syndrome	Trisomy 21 Complete Trisomy 21 Syndrome Down'S Syndrome Trisomy 21 Syndrome Down'S Syndrome - Trisomy 21 Downs Syndrome G Trisomy 47,Xx,+21 47,Xy,+21 Trisomy G Down Syndrome, Susceptibility To Chromosome 21 Trisomy Trisomy 21 Nos Abnormal Autosomes 21
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Charcot-Marie-Tooth Disease Recessive Intermediate C CMTRIC Ri-Cmtc Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C Ri-Cmt Type C Charcot-Marie-Tooth Neuropathy, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, C Charcot-Marie-Tooth Neuropathy Recessive Intermediate C
Spherocytosis, Type 3	Hereditary Spherocytosis Type 3 SPH3 Hs3 Spherocytosis, Hereditary, 3 Hereditary Spherocytosis 3 Spherocytosis 3
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
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea

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-RS10297	PDXK Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PDXK	MGD	MGI:1351869
Felis catus	PDXK	VGNC	VGNC:68779
Canis familiaris	PDXK	VGNC	VGNC:49939
Macaca mulatta	PDXK	VGNC	VGNC:75936
Bos taurus	PDXK	VGNC	VGNC:50243
Others	PDXK	NCBI