NAXD - NAD(P)HX dehydratase Gene

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

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09049	NAXD Human Pre-designed siRNA Set A		/	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