PDXK - pyridoxal kinase Gene

Homo sapiens

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

Gene ID: 8566 | Gene type: protein coding

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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10297	PDXK Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.