Identity
HGNC
LOCATION
16p13.11
LOCUSID
ALIAS
ABC34,ARA,EST349056,GACI2,MLP1,MOAT-E,MOATE,MRP6,PXE,PXE1,URG7
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: 368
MIM: 603234
HGNC: 57
Ensembl: ENSG00000091262
Variants:
dbSNP: 368
ClinVar: 368
TCGA: ENSG00000091262
COSMIC: ABCC6
RNA/Proteins
Expression (GTEx)
Pathways
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA445425 | Prostatic Neoplasms | Disease | ClinicalAnnotation | associated | PD | 20038957 | |
| PA449383 | docetaxel | Chemical | ClinicalAnnotation | associated | PD | 20038957 | |
| PA451644 | thalidomide | Chemical | ClinicalAnnotation | associated | PD | 20038957 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38256207 | 2024 | The 75-99 C-Terminal Peptide of URG7 Protein Promotes α-Synuclein Disaggregation. | 0 |
| 38256207 | 2024 | The 75-99 C-Terminal Peptide of URG7 Protein Promotes α-Synuclein Disaggregation. | 0 |
| 36261288 | 2023 | High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease. | 3 |
| 36261288 | 2023 | High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease. | 3 |
| 33820832 | 2022 | Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines. | 2 |
| 34597610 | 2022 | Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder. | 0 |
| 36012482 | 2022 | Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis. | 1 |
| 36030475 | 2022 | ABCC6P1 pseudogene induces ABCC6 upregulation and multidrug resistance in breast cancer. | 1 |
| 36317459 | 2022 | The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals. | 2 |
| 36497052 | 2022 | CircZXDC Promotes Vascular Smooth Muscle Cell Transdifferentiation via Regulating miRNA-125a-3p/ABCC6 in Moyamoya Disease. | 5 |
| 33820832 | 2022 | Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines. | 2 |
| 34597610 | 2022 | Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder. | 0 |
| 36012482 | 2022 | Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis. | 1 |
| 36030475 | 2022 | ABCC6P1 pseudogene induces ABCC6 upregulation and multidrug resistance in breast cancer. | 1 |
| 36317459 | 2022 | The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals. | 2 |
Citation
Dessen P
ABCC6 (ATP binding cassette subfamily C member 6)
Atlas Genet Cytogenet Oncol Haematol. 2003-08-01
Online version: http://atlasgeneticsoncology.org/gene/543/abcc6
