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Aliases for ATP7A Gene

Aliases for ATP7A Gene

  • ATPase Copper Transporting Alpha 2 3 5
  • Copper Pump 1 2 3 4
  • ATPase, Cu++ Transporting, Alpha Polypeptide 2 3
  • Menkes Disease-Associated Protein 3 4
  • Copper-Transporting ATPase 1 2 3
  • MNK 3 4
  • Cu++-Transporting P-Type ATPase 3
  • Menkes Syndrome 2
  • EC 3.6.3.54 4
  • EC 3.6.3.4 58
  • EC 3.6.3 58
  • DSMAX 3
  • SMAX3 3
  • MC1 4
  • MK 3

External Ids for ATP7A Gene

Previous HGNC Symbols for ATP7A Gene

  • MNK

Previous GeneCards Identifiers for ATP7A Gene

  • GC0XP072711
  • GC0XP074127
  • GC0XP075207
  • GC0XP075922
  • GC0XP076972
  • GC0XP077053
  • GC0XP077166
  • GC0XP070753

Summaries for ATP7A Gene

Entrez Gene Summary for ATP7A Gene

  • This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]

GeneCards Summary for ATP7A Gene

ATP7A (ATPase Copper Transporting Alpha) is a Protein Coding gene. Diseases associated with ATP7A include Menkes Disease and Occipital Horn Syndrome. Among its related pathways are Cellular Senescence (REACTOME) and Cardiac conduction. GO annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP7B.

UniProtKB/Swiss-Prot for ATP7A Gene

  • May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells.

Gene Wiki entry for ATP7A Gene

Additional gene information for ATP7A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP7A Gene

Genomics for ATP7A Gene

Regulatory Elements for ATP7A Gene

Enhancers for ATP7A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH077046 0.5 Ensembl 3.7 -864.3 -864256 0 KLF1 GATA3 FOXA1 ATP7A PBDC1 GC0XP077067 MIR325HG
GH0XH078333 0.8 FANTOM5 ENCODE 1.5 +423.1 423143 1 ATF7 EBF1 RELA CYSLTR1 ATP7A HMGN1P34
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP7A on UCSC Golden Path with GeneCards custom track

Promoters for ATP7A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000247328 644 2601 MLX ARID4B DMAP1 GTF3C2 GLIS2 ELK1 ZNF143 RUNX3 REST ZNF518A

Genomic Location for ATP7A Gene

Chromosome:
X
Start:
77,910,656 bp from pter
End:
78,050,395 bp from pter
Size:
139,740 bases
Orientation:
Plus strand

Genomic View for ATP7A Gene

Genes around ATP7A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP7A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP7A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP7A Gene

Proteins for ATP7A Gene

  • Protein details for ATP7A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q04656-ATP7A_HUMAN
    Recommended name:
    Copper-transporting ATPase 1
    Protein Accession:
    Q04656
    Secondary Accessions:
    • B1AT72
    • O00227
    • O00745
    • Q9BYY8

    Protein attributes for ATP7A Gene

    Size:
    1500 amino acids
    Molecular mass:
    163374 Da
    Quaternary structure:
    • Monomer. Interacts with PDZD11. Interacts with ATOX1 and COMMD1 (PubMed:21667063).

    Three dimensional structures from OCA and Proteopedia for ATP7A Gene

    Alternative splice isoforms for ATP7A Gene

neXtProt entry for ATP7A Gene

Selected DME Specific Peptides for ATP7A Gene

Q04656:
  • IIRFAFQ
  • VPGCGISCKV
  • KVFAEVLPSHKVAKV
  • TETIIRF
  • DPEIIGPRDI
  • ANMDVLIVLAT
  • MVGTGVGA
  • VLIGNREW
  • MVGDGIND
  • IRNDLLDVVASI
  • GMTCASCVANIERNLRREEGIYS
  • VAIEAAD
  • KYDPEII
  • KTSEALA
  • SSVSVVLSSL
  • DKTGTIT
  • GMHCKSCV
  • VWIVIGF
  • SCVQSIEG
  • SITVLCIACPCSLGLATPTAVMVGTGV
  • APIQQFAD
  • VAMVGDG
  • SLQATEAT
  • GILIKGG
  • GDNSKTA
  • GMTCASCV
  • DDELCGLIAIADTVKPEAELA
  • NANQIKE
  • KILAIVGTAESNSEHPLG
  • EPLVVIAQPS
  • SFLVSLFFC
  • FDTPPMLFVFIALGRWLEH
  • GTDVAIE
  • KKPGSTVIAGSIN
  • TGEAMPV
  • KVVPGGKFPVDG

Post-translational modifications for ATP7A Gene

  • Glycosylation at posLast=686686 and posLast=975975
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP7A Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ATP7A Gene

Gene Families for ATP7A Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for ATP7A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q04656

UniProtKB/Swiss-Prot:

ATP7A_HUMAN :
  • The C-terminal di-leucine, 1487-Leu-Leu-1488, is an endocytic targeting signal which functions in retrieving recycling from the plasma membrane to the TGN. Mutation of the di-leucine signal results in the accumulation of the protein in the plasma membrane.
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily.
Domain:
  • The C-terminal di-leucine, 1487-Leu-Leu-1488, is an endocytic targeting signal which functions in retrieving recycling from the plasma membrane to the TGN. Mutation of the di-leucine signal results in the accumulation of the protein in the plasma membrane.
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily.
genes like me logo Genes that share domains with ATP7A: view

Function for ATP7A Gene

Molecular function for ATP7A Gene

GENATLAS Biochemistry:
copper binding P-type ATPase 7A,several alternatively spliced isoforms,expressed in the trans-Golgi network of all tissues except liver for the full length protein and in the endoplasmic reticulum for the spliced form,rapidly relocalized to the plasma membrane using a C teminal di-leucine endocytic signal in case of elevated copper levels,involved in subcellular transport and copper efflux,incorporating the copper in cuproenzyme like cytochrome oxidase,dopamine B-hydroxylase,lysyl oxydase
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + Cu(+)(Side 1) = ADP + phosphate + Cu(+)(Side 2).
UniProtKB/Swiss-Prot Function:
May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells.

Enzyme Numbers (IUBMB) for ATP7A Gene

Gene Ontology (GO) - Molecular Function for ATP7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004008 copper-exporting ATPase activity ISS --
GO:0005375 copper ion transmembrane transporter activity ISS --
GO:0005507 copper ion binding IDA 15670166
GO:0005515 protein binding IPI 16051599
GO:0005524 ATP binding TAS 9817923
genes like me logo Genes that share ontologies with ATP7A: view
genes like me logo Genes that share phenotypes with ATP7A: view

Human Phenotype Ontology for ATP7A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ATP7A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP7A Gene

Localization for ATP7A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP7A Gene

Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=Cycles constitutively between the trans-Golgi network (TGN) and the plasma membrane (PubMed:9147644). Predominantly found in the TGN and relocalized to the plasma membrane in response to elevated copper levels. {ECO:0000269 PubMed:9147644}.
Isoform 3: Cytoplasm, cytosol.
Isoform 5: Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP7A gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
golgi apparatus 5
endosome 5
cytosol 4
nucleus 3
extracellular 2
cytoskeleton 1
mitochondrion 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATP7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005770 late endosome IDA 8943055
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IDA,IEA 9467005
genes like me logo Genes that share ontologies with ATP7A: view

Pathways & Interactions for ATP7A Gene

genes like me logo Genes that share pathways with ATP7A: view

Pathways by source for ATP7A Gene

Gene Ontology (GO) - Biological Process for ATP7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development ISS --
GO:0001701 in utero embryonic development IEA --
GO:0001889 liver development IEA --
GO:0001974 blood vessel remodeling ISS --
GO:0002082 regulation of oxidative phosphorylation ISS --
genes like me logo Genes that share ontologies with ATP7A: view

No data available for SIGNOR curated interactions for ATP7A Gene

Drugs & Compounds for ATP7A Gene

(18) Drugs for ATP7A Gene - From: DrugBank, PharmGKB, ClinicalTrials, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma Transporter, substrate 188
Cisplatin Approved Pharma Transporter, substrate Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2823
Carboplatin Approved Pharma Transporter, substrate Antitumor agent that forms platinum-DNA adducts., Platinum 2094
Oxaliplatin Approved, Investigational Pharma Transporter, substrate Antitumor agent, Platinum 1504
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes, Microtubule stabilizer 1993

(9) Additional Compounds for ATP7A Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with ATP7A: view

Transcripts for ATP7A Gene

mRNA/cDNA for ATP7A Gene

Unigene Clusters for ATP7A Gene

ATPase, Cu++ transporting, alpha polypeptide:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ATP7A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ATP7A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - -
SP2: -
SP3:

ExUns: 24
SP1:
SP2:
SP3:

Relevant External Links for ATP7A Gene

GeneLoc Exon Structure for
ATP7A
ECgene alternative splicing isoforms for
ATP7A

Expression for ATP7A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP7A Gene

Protein differential expression in normal tissues from HIPED for ATP7A Gene

This gene is overexpressed in Breast (41.3) and Heart (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATP7A Gene



NURSA nuclear receptor signaling pathways regulating expression of ATP7A Gene:

ATP7A

SOURCE GeneReport for Unigene cluster for ATP7A Gene:

Hs.496414

mRNA Expression by UniProt/SwissProt for ATP7A Gene:

Q04656-ATP7A_HUMAN
Tissue specificity: Found in most tissues except liver. Isoform 3 is widely expressed including in liver cell lines. Isoform 1 is expressed in fibroblasts, choriocarcinoma, colon carcinoma and neuroblastoma cell lines. Isoform 2 is expressed in fibroblasts, colon carcinoma and neuroblastoma cell lines.

Evidence on tissue expression from TISSUES for ATP7A Gene

  • Liver(4.5)
  • Heart(4.4)
  • Kidney(4.4)
  • Nervous system(4.2)
  • Blood(3)
  • Lung(2.7)
  • Skin(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP7A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • anus
  • pelvis
  • rectum
  • ureter
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ATP7A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for ATP7A Gene

Orthologs for ATP7A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP7A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP7A 33 34
  • 99.53 (n)
cow
(Bos Taurus)
Mammalia ATP7A 33 34
  • 92.31 (n)
dog
(Canis familiaris)
Mammalia ATP7A 33 34
  • 92.26 (n)
mouse
(Mus musculus)
Mammalia Atp7a 33 16 34
  • 88.37 (n)
rat
(Rattus norvegicus)
Mammalia Atp7a 33
  • 87.57 (n)
oppossum
(Monodelphis domestica)
Mammalia ATP7A 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP7A 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP7A 34 33
  • 73.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP7A 34
  • 71 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii atp7a 34 33
  • 64.24 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011754 33
  • 53.22 (n)
fruit fly
(Drosophila melanogaster)
Insecta ATP7 33
  • 52.8 (n)
CG1886 35
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea cua-1 33
  • 52.29 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F07447g 33
  • 48.15 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CCC2 33
  • 47.81 (n)
PCA1 34
  • 23 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons HMA5 33
  • 51.65 (n)
rice
(Oryza sativa)
Liliopsida Os04g0556000 33
  • 49.17 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ccc2 33
  • 49.7 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU08341 33
  • 46.42 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2923 33
Species where no ortholog for ATP7A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ATP7A Gene

ENSEMBL:
Gene Tree for ATP7A (if available)
TreeFam:
Gene Tree for ATP7A (if available)

Paralogs for ATP7A Gene

Paralogs for ATP7A Gene

(1) SIMAP similar genes for ATP7A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ATP7A: view

Variants for ATP7A Gene

Sequence variations from dbSNP and Humsavar for ATP7A Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs28936068 Occipital horn syndrome (OHS) [MIM:304150]
VAR_000699 Menkes disease (MNKD) [MIM:309400]
VAR_000700 Menkes disease (MNKD) [MIM:309400]
VAR_000701 Menkes disease (MNKD) [MIM:309400]
VAR_000702 Menkes disease (MNKD) [MIM:309400]

Structural Variations from Database of Genomic Variants (DGV) for ATP7A Gene

Variant ID Type Subtype PubMed ID
dgv2319e212 CNV loss 25503493
esv2758874 CNV loss 17122850
esv3574103 CNV loss 25503493
esv3574106 CNV loss 25503493
esv3576946 CNV gain 25503493
esv3576947 CNV gain 25503493

Variation tolerance for ATP7A Gene

Residual Variation Intolerance Score: 81.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.27; 90.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP7A Gene

Human Gene Mutation Database (HGMD)
ATP7A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP7A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP7A Gene

Disorders for ATP7A Gene

MalaCards: The human disease database

(15) MalaCards diseases for ATP7A Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
menkes disease
  • copper transport disease
occipital horn syndrome
  • cutis laxa x-linked
spinal muscular atrophy, distal, x-linked 3
  • atp7a-related distal motor neuropathy
atp7a-related distal motor neuropathy
  • spinal muscular atrophy, distal, x-linked recessivwe
atp7a-related copper transport disorders
- elite association - COSMIC cancer census association via MalaCards
Search ATP7A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ATP7A_HUMAN
  • Distal spinal muscular atrophy, X-linked, 3 (DSMAX3) [MIM:300489]: A neuromuscular disorder. Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. {ECO:0000269 PubMed:20170900}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Menkes disease (MNKD) [MIM:309400]: An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate. {ECO:0000269 PubMed:10079817, ECO:0000269 PubMed:10319589, ECO:0000269 PubMed:10401004, ECO:0000269 PubMed:11241493, ECO:0000269 PubMed:11350187, ECO:0000269 PubMed:15981243, ECO:0000269 PubMed:21667063, ECO:0000269 PubMed:22992316, ECO:0000269 PubMed:7977350, ECO:0000269 PubMed:8981948}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Occipital horn syndrome (OHS) [MIM:304150]: An X-linked recessive disorder of copper metabolism. Common features are unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary defects. The skeletal abnormalities include occipital horns, short, broad clavicles, deformed radii, ulnae and humeri, narrowing of the rib cage, undercalcified long bones with thin cortical walls and coxa valga. {ECO:0000269 PubMed:11431706, ECO:0000269 PubMed:17108763, ECO:0000269 PubMed:21667063, ECO:0000269 PubMed:9246006}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATP7A

Genetic Association Database (GAD)
ATP7A
Human Genome Epidemiology (HuGE) Navigator
ATP7A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP7A
genes like me logo Genes that share disorders with ATP7A: view

No data available for Genatlas for ATP7A Gene

Publications for ATP7A Gene

  1. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. (PMID: 20170900) Kennerson ML … Garbern JY (American journal of human genetics 2010) 3 4 22 60
  2. Genetic polymorphisms of copper- and platinum drug-efflux transporters ATP7A and ATP7B in Japanese cancer patients. (PMID: 20045993) Fukushima-Uesaka H … Sawada J (Drug metabolism and pharmacokinetics 2009) 3 22 45 60
  3. Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. (PMID: 15981243) Møller LB … Horn N (Human mutation 2005) 3 4 22 60
  4. ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. (PMID: 11241493) Gu YH … Lee CC (American journal of medical genetics 2001) 3 4 22 60
  5. A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. (PMID: 11431706) Dagenais SL … Glover TW (American journal of human genetics 2001) 3 4 22 60

Products for ATP7A Gene

Sources for ATP7A Gene

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