Identity
HGNC
LOCATION
1p22.1
LOCUSID
ALIAS
ABC10,ABCR,ARMD2,CORD3,FFM,RMP,RP19,STGD,STGD1
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: 24
MIM: 601691
HGNC: 34
Ensembl: ENSG00000198691
Variants:
dbSNP: 24
ClinVar: 24
TCGA: ENSG00000198691
COSMIC: ABCA4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000198691 | ENST00000370225 | P78363 |
| ENSG00000198691 | ENST00000536513 | F6TT59 |
| ENSG00000198691 | ENST00000649773 | A0A3B3IRV8 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37695977 | 2024 | GENETIC FACTORS AND CHARACTERISTICS ON SPECTRAL-DOMAIN OPTICAL COHERENCE TOMOGRAPHY ARE ASSOCIATED WITH CHOROIDAL THICKNESS IN ABCA4 -RELATED RETINOPATHY. | 1 |
| 37774808 | 2024 | Comprehensive genetic analysis reveals the mutational landscape of ABCA4-associated retinal dystrophy in a Chinese cohort. | 0 |
| 38466963 | 2024 | Understanding and Rescuing the Splicing Defect Caused by the Frequent ABCA4 Variant c.4253+43G>A Underlying Stargardt Disease. | 0 |
| 38892127 | 2024 | Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy. | 0 |
| 37695977 | 2024 | GENETIC FACTORS AND CHARACTERISTICS ON SPECTRAL-DOMAIN OPTICAL COHERENCE TOMOGRAPHY ARE ASSOCIATED WITH CHOROIDAL THICKNESS IN ABCA4 -RELATED RETINOPATHY. | 1 |
| 37774808 | 2024 | Comprehensive genetic analysis reveals the mutational landscape of ABCA4-associated retinal dystrophy in a Chinese cohort. | 0 |
| 38466963 | 2024 | Understanding and Rescuing the Splicing Defect Caused by the Frequent ABCA4 Variant c.4253+43G>A Underlying Stargardt Disease. | 0 |
| 38892127 | 2024 | Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy. | 0 |
| 36931393 | 2023 | Retinal-phospholipid Schiff-base conjugates and their interaction with ABCA4, the ABC transporter associated with Stargardt disease. | 3 |
| 37175983 | 2023 | Role of the ABCA4 Gene Expression in the Clearance of Toxic Vitamin A Derivatives in Human Hair Follicle Stem Cells and Keratinocytes. | 0 |
| 37296172 | 2023 | Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients. | 2 |
| 37385300 | 2023 | Retina and RPE lipid profile changes linked with ABCA4 associated Stargardt's maculopathy. | 3 |
| 37440047 | 2023 | Genotype-Phenotype Association in ABCA4-Associated Retinopathy. | 1 |
| 37498587 | 2023 | Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy. | 3 |
| 37555651 | 2023 | Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing. | 1 |
Citation
Dessen P
ABCA4 (ATP binding cassette subfamily A member 4)
Atlas Genet Cytogenet Oncol Haematol. 2014-06-01
Online version: http://atlasgeneticsoncology.org/gene/53940/abca4-(atp-binding-cassette-subfamily-a-member-4)
