2. Gene
  3. NAXD - NAD(P)HX dehydratase Gene

NAXD - NAD(P)HX dehydratase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CARKD; LP3298; PEBEL2

Gene ID: 55739 | Gene type: protein coding

About NAXD

Cytogenetic location: 13q34 Genomic coordinates (GRCh38): 13:110,615,460-110,639,996 (from NCBI)

This gene has 8 transcripts (splice variants), 209 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 20.3), ovary (RPKM 19.8) and 25 other tissues.

Summary

Enables ATP-dependent NAD(P)H-hydrate dehydratase activity. Predicted to be involved in metabolite repair. Predicted to be located in cytosol; endoplasmic reticulum; and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

NAXD Products(4)

mRNA Protein Name
NM_001242881.2 NP_001229810.1 ATP-dependent (S)-NAD(P)H-hydrate dehydratase isoform b
NM_001242882.2 NP_001229811.1 ATP-dependent (S)-NAD(P)H-hydrate dehydratase isoform c
NM_001242883.2 NP_001229812.1 ATP-dependent (S)-NAD(P)H-hydrate dehydratase isoform d
NM_018210.4 NP_060680.2 ATP-dependent (S)-NAD(P)H-hydrate dehydratase isoform a
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables ATP-dependent NAD(P)H-hydrate dehydratase activity IMP
IMP: Inferred from mutant phenotype
30576410 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21516116 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

NAXD Protein Structure

Carb_kinase

Carb_kinase: Carbohydrate kinase (77 - 289)

  • 0
  • 100
  • 200
  • 300
  • 390 a.a.
Protein Preferred Names Protein Names

ATP-dependent (S)-NAD(P)H-hydrate dehydratase

ATP-dependent NAD(P)H-hydrate dehydratase

NAXD Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra NAXD Q8IW45 KRTAP10-8 Homo sapiens P60410
Y2H Array
25416956
Intra NAXD Q8IW45 KRTAP10-8 Homo sapiens P60410
Y2H Array
32296183
Intra NAXD Q8IW45 KRTAP10-8 Homo sapiens P60410
Y2H Prey Pooling
32296183
Intra NAXD Q8IW45 KRTAP10-9 Homo sapiens P60411
Validated Y2H
25416956
Intra NAXD Q8IW45 KRTAP10-7 Homo sapiens P60409
Validated Y2H
25416956
Intra NAXD Q8IW45 KRTAP10-7 Homo sapiens P60409
Y2H Array
32296183
Intra NAXD Q8IW45 KRTAP10-7 Homo sapiens P60409
Y2H Prey Pooling
25416956
Intra NAXD Q8IW45 KRTAP10-7 Homo sapiens P60409
Y2H Prey Pooling
32296183
Intra NAXD Q8IW45 UBQLN1 Homo sapiens Q9UMX0-2
Validated Y2H
25416956
Intra NAXD Q8IW45 UBQLN1 Homo sapiens Q9UMX0-2
Y2H Prey Pooling
25416956
Intra NAXD Q8IW45 KRT34 Homo sapiens O76011
Y2H Prey Pooling
32296183
Intra NAXD Q8IW45 KRT34 Homo sapiens O76011
Y2H Array
32296183
Intra NAXD Q8IW45 KRTAP1-3 Homo sapiens Q8IUG1
Y2H Prey Pooling
32296183
Intra NAXD Q8IW45 KRTAP1-3 Homo sapiens Q8IUG1
Y2H Array
32296183
Intra NAXD Q8IW45 KRTAP10-6 Homo sapiens P60371
Y2H Prey Pooling
32296183
Intra NAXD Q8IW45 KRTAP10-6 Homo sapiens P60371
Y2H Array
32296183
Intra NAXD Q8IW45 SGTA Homo sapiens O43765
Validated Y2H
25416956
Intra NAXD Q8IW45 SGTA Homo sapiens O43765
Y2H Prey Pooling
32296183
Intra NAXD Q8IW45 SGTA Homo sapiens O43765
Y2H Array
32296183
Intra NAXD Q8IW45 KRTAP5-9 Homo sapiens P26371
Validated Y2H
25416956
Intra NAXD Q8IW45 UBQLN1 Homo sapiens Q9UMX0
Validated Y2H
25416956
Intra NAXD Q8IW45 UBQLN1 Homo sapiens Q9UMX0
Y2H Array
25416956
Intra NAXD Q8IW45 SGTB Homo sapiens Q96EQ0
Y2H Prey Pooling
32296183
Intra NAXD Q8IW45 SGTB Homo sapiens Q96EQ0
Validated Y2H
32296183
Intra NAXD Q8IW45 SGTB Homo sapiens Q96EQ0
Y2H Array
32296183
Intra NAXD Q8IW45 NOTCH2NLA Homo sapiens Q7Z3S9
Validated Y2H
25416956
Intra NAXD Q8IW45 NOTCH2NLA Homo sapiens Q7Z3S9
Y2H Array
25416956
Intra NAXD Q8IW45 UBQLN2 Homo sapiens Q9UHD9
Validated Y2H
32296183
Intra NAXD Q8IW45 UBQLN2 Homo sapiens Q9UHD9
Y2H Array
32296183
Intra NAXD Q8IW45 UBQLN2 Homo sapiens Q9UHD9
Y2H Prey Pooling
32296183
Intra NAXD Q8IW45 KRT31 Homo sapiens Q15323
Validated Y2H
25416956
Intra NAXD Q8IW45 KRT31 Homo sapiens Q15323
Y2H Prey Pooling
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2

Nad Hx Dehydratase Deficiency

PEBEL2

Carkd Deficiency

Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, Type 2
L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Acidemia

L2HGA

L-2-Hga

Aciduria, L-2-Hydroxyglutaric

Combined D-2- And L-2-Hydroxyglutaric Aciduria
2-Hydroxyglutaric Aciduria

2-Hga

2-Hydroxyglutaric Acidemia

2-Hydroxyglutaricaciduria

Combined D-2- And L-2-Hydroxyglutaric Aciduria
Brain Edema

Cerebral Edema

Intracranial Swelling

Wet Brain
Phototoxic Dermatitis

Dermatitis, Phototoxic

Photosensitisation Reaction

Photosensitive Dermatitis

Photosensitiveness
Hartnup Disorder

Hartnup Disease

HND

Neutral 1 Amino Acid Transport Defect

Neutral Amino Acid Transport Defect

Deficiency Of Tryptophan Oxygenase

Hartnup'S Disease

Aminoaciduria, Hartnup Type

Disorder Of Neutral Amino Acid Transport
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-RS09049 NAXD Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus NAXD RGD RGD:1562691
Felis catus NAXD VGNC VGNC:102264
Bos taurus NAXD VGNC VGNC:53829
Macaca mulatta NAXD VGNC VGNC:106276
Mus musculus NAXD MGD MGI:1913353