1. Gene
  2. ATOX1 - antioxidant 1 copper chaperone Gene

ATOX1 - antioxidant 1 copper chaperone Gene

Homo sapiens

Also known as ATX1; HAH1

Gene ID: 475 | Gene type: protein coding

About ATOX1

Cytogenetic location: 5q33.1 Genomic coordinates (GRCh38): 5:151,742,822-151,758,631 (from NCBI)

This gene has 7 transcripts (splice variants) and 81 orthologues. Ubiquitous expression in liver (RPKM 54.4), kidney (RPKM 49.1) and 25 other tissues.

Summary

This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in Cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. [provided by RefSeq, Jul 2008]

ATOX1 Products(1)

mRNA Protein Name
NM_004045.4 NP_004036.1 copper transport protein ATOX1

ATOX1 Protein Structure

HMA

HMA: Heavy-metal-associated domain (6 - 60)

  • 0
  • 68 a.a.
Protein Preferred Names Protein Names

copper transport protein ATOX1

ATX1 antioxidant protein 1 homolog

Recombinant ATOX1 Proteins

Cat. No. Product Name Accession Purity
HY-P75585 ATOX1 Protein, Human (His) O00244 (M1-E68) ≥95%

Related Diseases

Diseases Alias
Wilson Disease

Hepatolenticular Degeneration

WD

Wilson'S Disease

WND

Westphal-Strumpell Syndrome

Copper Storage Disease

Cerebral Pseudosclerosis

Westphal Pseudosclerosis

Hepatolenticular Degeneration Syndrome

Copper Retention

Hepatocerebral Degeneration

Kinnier-Wilson Disease

Neurohepatic Degeneration

Progressive Hepatolenticular Degeneration

Lenticular Degenerative Disease

Wilson'S Syndrome

Lenticular Syndrome

Menkes Disease

Copper Transport Disease

Menkes Syndrome

MNK

Kinky Hair Disease

Steely Hair Disease

Menkes Kinky-Hair Syndrome

Mk

Steely Hair Syndrome

Menkea Syndrome

Md

Menkes Kinky Hair Syndrome

Hypocupremia, Congenital

Kinky Hair Syndrome

X-Linked Copper Deficiency

Menkes Kinky Hair Disease

Occipital Horn Syndrome

OHS

Eds Ix

Cutis Laxa X-Linked

Cutis Laxa, X-Linked

Cutis Laxa, X-Linked, Formerly

Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly

Eds Ix, Formerly

Eds9, Formerly

Ehlers-Danlos Syndrome Type 9

Ehlers-Danlos Syndrome Type Ix

X-Linked Cutis Laxa

Ehlers-Danlos Syndrome, Occipital Horn Type

Eds9

Ehlers-Danlos Syndrome Occipital Horn Type

Spinal Muscular Atrophy, Distal, X-Linked 3

SMAX3

Dsmax

X-Linked Distal Spinal Muscular Atrophy Type 3

X-Linked Distal Spinal Muscular Atrophy 3

Atp7a-Related Distal Motor Neuropathy

X-Linked Dhmn3

X-Linked Distal Hereditary Motor Neuropathy Type 3

X-Linked Dsma3

Spinal Muscular Atrophy, Distal, X-Linked Recessive

X-Linked Recessive Distal Spinal Muscular Atrophy

Distal Spinal Muscular Atrophy, X-Linked, 3

DSMAX3

Spinal Muscular Atrophy Distal X-Linked Recessive

Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

Aceruloplasminemia

Cerebellar Ataxia

Hypoceruloplasminemia

Hemosiderosis, Systemic, Due To Aceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hereditary Ceruloplasmin Deficiency

Deficiency Of Ferroxidase

Hypoceruloplasminemia, Hereditary

Ceruloplasmin Deficiency

Systemic Hemosiderosis Due To Aceruloplasminemia

ACERULOP

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta ATOX1 VGNC VGNC:110484
Rattus norvegicus ATOX1 RGD RGD:621684
Bos taurus ATOX1 VGNC VGNC:26273
Canis familiaris ATOX1 VGNC VGNC:38237
Mus musculus ATOX1 MGD MGI:1333855
Felis catus ATOX1 VGNC VGNC:82457
Others ATOX1 NCBI