Identity
HGNC
LOCATION
17q24.3
LOCUSID
ALIAS
ABC13,EST90625,HTC3
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23461
MIM: 612503
HGNC: 35
Ensembl: ENSG00000154265
Variants:
dbSNP: 23461
ClinVar: 23461
TCGA: ENSG00000154265
COSMIC: ABCA5
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37348644 | 2023 | Cholesterol homeostasis in hair follicle keratinocytes is disrupted by impaired ABCA5 activity. | 0 |
| 37348644 | 2023 | Cholesterol homeostasis in hair follicle keratinocytes is disrupted by impaired ABCA5 activity. | 0 |
| 35150007 | 2022 | Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis. | 1 |
| 35150007 | 2022 | Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis. | 1 |
| 33404706 | 2021 | Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle. | 5 |
| 33404706 | 2021 | Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle. | 5 |
| 32687853 | 2020 | Novel Mechanism of Cholesterol Transport by ABCA5 in Macrophages and Its Role in Dyslipidemia. | 9 |
| 32687853 | 2020 | Novel Mechanism of Cholesterol Transport by ABCA5 in Macrophages and Its Role in Dyslipidemia. | 9 |
| 25125465 | 2015 | ABCA5 regulates amyloid-β peptide production and is associated with Alzheimer's disease neuropathology. | 19 |
| 25125465 | 2015 | ABCA5 regulates amyloid-β peptide production and is associated with Alzheimer's disease neuropathology. | 19 |
| 24831815 | 2014 | Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. | 18 |
| 24831815 | 2014 | Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. | 18 |
| 22870217 | 2012 | Identification of CBX3 and ABCA5 as putative biomarkers for tumor stem cells in osteosarcoma. | 41 |
| 23939407 | 2012 | Changes in sphingomyelin level affect alpha-synuclein and ABCA5 expression. | 14 |
| 22870217 | 2012 | Identification of CBX3 and ABCA5 as putative biomarkers for tumor stem cells in osteosarcoma. | 41 |
Citation
Dessen P
ABCA5 (ATP binding cassette subfamily A member 5)
Atlas Genet Cytogenet Oncol Haematol. 2007-07-01
Online version: http://atlasgeneticsoncology.org/gene/47579/abca5
