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Aliases for ABCA7 Gene

Aliases for ABCA7 Gene

  • ATP Binding Cassette Subfamily A Member 7 2 3 5
  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 7 2 3
  • Macrophage ABC Transporter 3 4
  • Autoantigen SS-N 3 4
  • ABCA-SSN 3 4
  • ATP-Binding Cassette Sub-Family A Member 7 3
  • EC 3.6.3.41 61
  • EC 2.2.1.1 61
  • EC 3.6.3 61
  • ABCX 3
  • AD9 3

External Ids for ABCA7 Gene

Previous GeneCards Identifiers for ABCA7 Gene

  • GC19P001116
  • GC19P000981
  • GC19P000992
  • GC19P000812

Summaries for ABCA7 Gene

Entrez Gene Summary for ABCA7 Gene

  • The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCA7 Gene

ABCA7 (ATP Binding Cassette Subfamily A Member 7) is a Protein Coding gene. Diseases associated with ABCA7 include Conjunctival Folliculosis and Alzheimer's Disease 15. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include transporter activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCA1.

UniProtKB/Swiss-Prot for ABCA7 Gene

  • Plays a role in phagocytosis by macrophages of apoptotic cells. Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells. May also mediate cholesterol efflux. May regulate cellular ceramide homeostasis during keratinocytes differentiation.

Gene Wiki entry for ABCA7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCA7 Gene

Genomics for ABCA7 Gene

Regulatory Elements for ABCA7 Gene

Enhancers for ABCA7 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
GH19G001037 1.4 ENCODE dbSUPER 56.8 +0.3 335 6.0 CREB3L1 AGO1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 ZNF610 GLIS1 ABCA7 CIRBP LOC100288123 TMEM259 GRIN3B ENSG00000267317 POLRMT MIER2 CNN2 WDR18
GH19G001025 1.8 FANTOM5 ENCODE dbSUPER 38.3 -11.7 -11721 5.8 PKNOX1 CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF143 SP3 ABCA7 CNN2 C19orf24 ARHGAP45 SCAMP4 GRIN3B SBNO2 GZMM R3HDM4 RNU6-2
GH19G001014 1.5 FANTOM5 ENCODE dbSUPER 30 -23.3 -23256 3.9 HDGF PKNOX1 AGO1 ZFP64 ZNF2 TCF12 GLIS2 GATA2 FOS KLF7 ABCA7 GRIN3B TMEM259 ENSG00000267317 LOC100288123 C19orf24 SCAMP4 CNN2 MIER2 ENSG00000274177
GH19G001019 1.5 ENCODE dbSUPER 29.9 -18.9 -18894 4.4 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF263 TMEM259 LOC100288123 GRIN3B ABCA7 ENSG00000267317 ENSG00000261526 CIRBP WDR18 MIER2 PLK5
GH19G001065 1.6 FANTOM5 ENCODE dbSUPER 18.8 +27.1 27057 6.0 HDGF MLX AGO1 WRNIP1 ZFP64 SIN3A ARID4B DMAP1 ZNF2 ZNF143 ARHGAP45 ABCA7 LOC100288123 TMEM259 MIER2 POLR2E SBNO2 ENSG00000267317 POLRMT MIDN
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABCA7 on UCSC Golden Path with GeneCards custom track

Promoters for ABCA7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000286979 199 1001 HDGF PKNOX1 ARNT AGO1 ARID4B SIN3A YY1 SLC30A9 ZNF766 ZNF143
ENSR00000105603 999 201 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF766 FOS KLF13 SP3 NFYC

Genomic Location for ABCA7 Gene

Chromosome:
19
Start:
1,040,101 bp from pter
End:
1,065,572 bp from pter
Size:
25,472 bases
Orientation:
Plus strand

Genomic View for ABCA7 Gene

Genes around ABCA7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCA7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCA7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCA7 Gene

Proteins for ABCA7 Gene

  • Protein details for ABCA7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZY2-ABCA7_HUMAN
    Recommended name:
    ATP-binding cassette sub-family A member 7
    Protein Accession:
    Q8IZY2
    Secondary Accessions:
    • Q96S58
    • Q9BZC4
    • Q9NR73
    • Q9UKP8

    Protein attributes for ABCA7 Gene

    Size:
    2146 amino acids
    Molecular mass:
    234350 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ABCA7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCA7 Gene

Selected DME Specific Peptides for ABCA7 Gene

Q8IZY2:
  • LDEPTTG
  • NGAGKTT
  • LDEPTAG
  • GLGKLIA

Post-translational modifications for ABCA7 Gene

Domains & Families for ABCA7 Gene

Gene Families for ABCA7 Gene

Protein Domains for ABCA7 Gene

Suggested Antigen Peptide Sequences for ABCA7 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IZY2

UniProtKB/Swiss-Prot:

ABCA7_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCA family.
Family:
  • Belongs to the ABC transporter superfamily. ABCA family.
genes like me logo Genes that share domains with ABCA7: view

Function for ABCA7 Gene

Molecular function for ABCA7 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in phagocytosis by macrophages of apoptotic cells. Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells. May also mediate cholesterol efflux. May regulate cellular ceramide homeostasis during keratinocytes differentiation.
UniProtKB/Swiss-Prot Induction:
Up-regulated in macrophages upon cholesterol uptake and inversely regulated upon cholesterol deloading from the cells (at protein level). Up-regulated in keratinocytes during terminal differentiation.

Enzyme Numbers (IUBMB) for ABCA7 Gene

Gene Ontology (GO) - Molecular Function for ABCA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005215 transporter activity TAS 10873640
GO:0005524 ATP binding TAS,IEA --
GO:0005548 phospholipid transporter activity IEA --
GO:0016887 ATPase activity IDA 24097981
genes like me logo Genes that share ontologies with ABCA7: view
genes like me logo Genes that share phenotypes with ABCA7: view

Animal Models for ABCA7 Gene

MGI Knock Outs for ABCA7:

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCA7

CRISPR Products

miRNA for ABCA7 Gene

miRTarBase miRNAs that target ABCA7

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ABCA7 Gene

Localization for ABCA7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCA7 Gene

Cell membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Early endosome membrane; Multi-pass membrane protein. Note=Localizes to cell membrane ruffles and phagocytic cups of macrophages stimulated with C1q or apoptotic cells. Localizes to the cytoplasm of resting macrophages, probably in Golgi and endosomes. Localizes to the apical brush border of cells in the proximal tubules of kidney (By similarity). Isoform 2 may localize to the endoplasmic reticulum (PubMed:14592415). {ECO:0000250 UniProtKB:Q91V24, ECO:0000269 PubMed:14592415}.

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 ABCA7 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
endosome 3
cytosol 2
extracellular 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ABCA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0001891 phagocytic cup IEA,ISS --
GO:0005622 intracellular IEA --
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with ABCA7: view

Pathways & Interactions for ABCA7 Gene

genes like me logo Genes that share pathways with ABCA7: view

Pathways by source for ABCA7 Gene

Gene Ontology (GO) - Biological Process for ABCA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006909 phagocytosis IEA --
GO:0007613 memory IEA,ISS --
GO:0010875 positive regulation of cholesterol efflux ISS,IEA --
GO:0015917 aminophospholipid transport IEA --
genes like me logo Genes that share ontologies with ABCA7: view

No data available for SIGNOR curated interactions for ABCA7 Gene

Drugs & Compounds for ABCA7 Gene

(1) Drugs for ABCA7 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(84) Additional Compounds for ABCA7 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
genes like me logo Genes that share compounds with ABCA7: view

Transcripts for ABCA7 Gene

Unigene Clusters for ABCA7 Gene

ATP-binding cassette, sub-family A (ABC1), member 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCA7 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7: -
SP8:
SP9: -
SP10:
SP11:

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35a · 35b · 35c ^ 36 ^ 37a · 37b ^ 38 ^ 39 ^ 40 ^
SP1:
SP2: -
SP3:
SP4: -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 41 ^ 42 ^ 43a · 43b ^ 44 ^ 45a · 45b · 45c ^ 46 ^ 47 ^ 48
SP1: - -
SP2: - -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for ABCA7 Gene

GeneLoc Exon Structure for
ABCA7
ECgene alternative splicing isoforms for
ABCA7

Expression for ABCA7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCA7 Gene

mRNA differential expression in normal tissues according to GTEx for ABCA7 Gene

This gene is overexpressed in Whole Blood (x13.7) and Pituitary (x6.0).

Protein differential expression in normal tissues from HIPED for ABCA7 Gene

This gene is overexpressed in Retina (28.2), Adipocyte (27.6), and Frontal cortex (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ABCA7 Gene



Protein tissue co-expression partners for ABCA7 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABCA7 Gene:

ABCA7

SOURCE GeneReport for Unigene cluster for ABCA7 Gene:

Hs.134514

mRNA Expression by UniProt/SwissProt for ABCA7 Gene:

Q8IZY2-ABCA7_HUMAN
Tissue specificity: Expressed in leukocytes (at protein level). Widely expressed. Highly expressed in myelo-lymphatic tissues including peripheral leukocytes, thymus, spleen and bone marrow. Isoform 2 is more abundant in lymph node, spleen, thymus and trachea than isoform 1 which is more strongly expressed in brain and bone marrow.

Evidence on tissue expression from TISSUES for ABCA7 Gene

  • Spleen(4.3)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with ABCA7: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCA7 Gene

Orthologs for ABCA7 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABCA7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCA7 34
  • 98.39 (n)
cow
(Bos Taurus)
Mammalia ABCA7 34 35
  • 83.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 83 (a)
OneToMany
-- 35
  • 63 (a)
OneToMany
-- 35
  • 59 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ABCA7 34 35
  • 81.78 (n)
mouse
(Mus musculus)
Mammalia Abca7 34 16 35
  • 78.02 (n)
rat
(Rattus norvegicus)
Mammalia Abca7 34
  • 78 (n)
oppossum
(Monodelphis domestica)
Mammalia ABCA7 35
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCA7 35
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCA7 35
  • 64 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ABCA7 (2 of 3) 35
  • 62 (a)
OneToMany
ABCA7 (1 of 3) 35
  • 48 (a)
OneToMany
ABCA7 (3 of 3) 35
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BG:DS00797.5 36
  • 32 (a)
Species where no ortholog for ABCA7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ABCA7 Gene

ENSEMBL:
Gene Tree for ABCA7 (if available)
TreeFam:
Gene Tree for ABCA7 (if available)

Paralogs for ABCA7 Gene

Paralogs for ABCA7 Gene

genes like me logo Genes that share paralogs with ABCA7: view

Variants for ABCA7 Gene

Sequence variations from dbSNP and Humsavar for ABCA7 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs538591288 Uncertain significance 1,055,909(+) CAGCC(-/T)GAAGA nc-transcript-variant, reference, frameshift-variant
rs201060968 other 1,054,256(+) GGGCT(A/G)GGCAC nc-transcript-variant, reference, stop-gained
rs547447016 other 1,047,509(+) CTGGA(-/GGAGCAG)GGCGA nc-transcript-variant, upstream-variant-2KB, reference, frameshift-variant
rs869320771 other 1,047,511(+) GGAGG(-/AGCAGG)GCGAG nc-transcript-variant, upstream-variant-2KB, cds-indel
rs1000043948 -- 1,065,936(+) AGGAG(C/T)CCGGT downstream-variant-500B, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for ABCA7 Gene

Variant ID Type Subtype PubMed ID
dgv135n111 CNV deletion 26073780
dgv136n111 CNV deletion 26073780
dgv6180n54 CNV gain+loss 21841781
dgv6181n54 CNV gain 21841781
dgv6182n54 CNV loss 21841781
dgv6183n54 CNV loss 21841781
dgv6184n54 CNV loss 21841781
esv1005530 CNV insertion 20482838
esv1435034 CNV deletion 17803354
esv2657477 CNV deletion 23128226
esv26912 CNV gain 19812545
esv2717823 CNV deletion 23290073
esv2717824 CNV deletion 23290073
esv2717825 CNV deletion 23290073
esv2758743 CNV gain+loss 17122850
esv3218200 CNV deletion 24192839
esv3398695 CNV duplication 20981092
esv3643383 CNV gain 21293372
nsv1058677 CNV loss 25217958
nsv1071486 CNV deletion 25765185
nsv1143895 CNV deletion 24896259
nsv1160555 CNV deletion 26073780
nsv469845 CNV loss 16826518
nsv470102 CNV loss 18288195
nsv578188 CNV loss 21841781
nsv578190 CNV gain 21841781
nsv578191 CNV loss 21841781
nsv578192 CNV gain 21841781
nsv578196 CNV loss 21841781
nsv578203 CNV loss 21841781
nsv578204 CNV loss 21841781
nsv578209 CNV loss 21841781
nsv578210 CNV loss 21841781
nsv578214 CNV loss 21841781
nsv828361 CNV gain 20364138
nsv833704 CNV gain 17160897
nsv953938 CNV deletion 24416366
nsv960770 CNV duplication 23825009
nsv9662 CNV gain 18304495

Variation tolerance for ABCA7 Gene

Residual Variation Intolerance Score: 99.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.08; 96.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCA7 Gene

Human Gene Mutation Database (HGMD)
ABCA7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCA7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCA7 Gene

Disorders for ABCA7 Gene

MalaCards: The human disease database

(11) MalaCards diseases for ABCA7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
conjunctival folliculosis
  • acute follicular conjunctivitis
alzheimer's disease 15
  • ad15
alzheimer disease 19, late onset
  • alzheimer's disease 19
alzheimer disease 17
  • alzheimer's disease 17
alzheimer's disease 7
  • ad7
- elite association - COSMIC cancer census association via MalaCards
Search ABCA7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ABCA7_HUMAN
  • Alzheimer disease 9 (AD9) [MIM:608907]: A familial, late-onset form of Alzheimer disease, a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. {ECO:0000269 PubMed:25807283, ECO:0000269 PubMed:26141617}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for ABCA7

Genetic Association Database (GAD)
ABCA7
Human Genome Epidemiology (HuGE) Navigator
ABCA7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCA7
genes like me logo Genes that share disorders with ABCA7: view

No data available for Genatlas for ABCA7 Gene

Publications for ABCA7 Gene

  1. Human ABCA7 supports apolipoprotein-mediated release of cellular cholesterol and phospholipid to generate high density lipoprotein. (PMID: 14570867) Abe-Dohmae S. … Yokoyama S. (J. Biol. Chem. 2004) 3 4 22 64
  2. Identification of a novel human sterol-sensitive ATP-binding cassette transporter (ABCA7). (PMID: 10873640) Kaminski W.E. … Schmitz G. (Biochem. Biophys. Res. Commun. 2000) 3 4 22 64
  3. Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study. (PMID: 26141617) Cuyvers E. … Sleegers K. (Lancet Neurol 2015) 3 4 64
  4. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. (PMID: 21460840) Hollingworth P. … Williams J. (Nat. Genet. 2011) 3 46 64
  5. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. (PMID: 21460841) Naj A.C. … Schellenberg G.D. (Nat. Genet. 2011) 3 46 64

Products for ABCA7 Gene

Sources for ABCA7 Gene

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