2. Gene
  3. PDXK - pyridoxal kinase Gene

PDXK - pyridoxal kinase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：吡哆醛激酶

种属: Homo sapiens

同用名: PKH; PNK; HMSN6C; PRED79; C21orf97; HEL-S-1a; C21orf124

基因 ID: 8566 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质使维生素 B6 磷酸化，这是将维生素 B6 转化为吡哆醛 5-磷酸所需的步骤，吡哆醛是中间代谢的重要辅助因子。编码的蛋白质是细胞质的，可能作为同源二聚体。已经描述了选择性剪接的转录本变体，但尚未确定它们的生物学有效性。[RefSeq 提供，2008 年 7 月]

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 基因产物(2)

mRNA Protein Name
NM_001331030.2 NP_001317959.1 pyridoxal kinase isoform 2
NM_003681.5 NP_003672.1 pyridoxal kinase isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ATP binding IDA
IDA: 通过直接分析推断
16600635 GOA
enables lithium ion binding IDA
IDA: 通过直接分析推断
9252787 GOA
enables magnesium ion binding IDA
IDA: 通过直接分析推断
17766369 GOA
enables potassium ion binding IDA
IDA: 通过直接分析推断
9252787 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
16600635 GOA
enables pyridoxal kinase activity IDA
IDA: 通过直接分析推断
9099727 GOA
enables pyridoxal kinase activity IMP
IMP: 通过突变表型推断
31187503 GOA
enables pyridoxal phosphate binding IDA
IDA: 通过直接分析推断
16600635 GOA
enables sodium ion binding IDA
IDA: 通过直接分析推断
9252787 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
10987144 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in pyridoxal 5'-phosphate salvage IDA
IDA: 通过直接分析推断
9099727 GOA
involved in pyridoxal 5'-phosphate salvage IMP
IMP: 通过突变表型推断
31187503 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

PDXK 蛋白结构

PfkB

PfkB: pfkB family carbohydrate kinase (9 - 278)

  • 0
  • 100
  • 200
  • 312 a.a.
蛋白主名 其他名称

pyridoxal kinase

epididymis secretory sperm binding protein Li 1a

PDXK 抗体

目录号 产品名 应用 反应物种
HY-P83799 PDXK Antibody (YA3496) WB, IHC-P, ICC/IF, FC Human, Mouse

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10297 PDXK Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
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