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NAXD - NAD(P)HX dehydratase Gene

Also Known as CARKD; LP3298; PEBEL2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55739

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	References	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

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	References
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

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 Set	/	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
Others	NAXD	NCBI