ABCC6
- Known as:
- ABCC6
- Catalog number:
- 000912A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ABCC6
Related genes to: ABCC6
- Gene:
- ABCC6 NIH gene
- Name:
- ATP binding cassette subfamily C member 6
- Previous symbol:
- ARA, PXE
- Synonyms:
- MRP6, EST349056, MLP1, URG7
- Chromosome:
- 16p13.11
- Locus Type:
- gene with protein product
- Date approved:
- 1997-10-27
- Date modifiied:
- 2019-04-23
Related products to: ABCC6
Related articles to: ABCC6
- Whether spontaneous cervical artery dissection (sCeAD), the leading cause of ischemic stroke in young adults, represents the manifestation of unrecognized hereditary connective tissue disorders (HCTDs) and whether HCTDs have a major impact in the epidemiology of the disease is a matter of ongoing debate. We aimed at determining the frequency of clinically relevant genetic variants (CRGVs) in a cohort of unselected sCeAD patients by targeted next-generation sequencing (NGS) approach. - Source: PubMed
Publication date: 2026/09/02
Corradi LorenzoFerraro ChiaraTesi FiammettaAbrignani GiorgiaCastellini PaolaLatte LiliaTrapasso Maria ClaudiaGenovese AntonioRitelli Marco GiuseppeCinquina ValeriaGiliani Silvia ClaraMagoni MauroMenozzi RobertoPezzini Alessandro - Mucoepidermoid carcinoma (MEC), the most prevalent malignant salivary gland cancer, remains incompletely characterized at the molecular level. An integrated analytical pipeline was employed, combining differential expression analysis, weighted gene co-expression network analysis (WGCNA), resampling-based stability selection, machine learning, and cross-platform validation to identify robust diagnostic biomarkers for MEC. Two public microarray datasets (GSE169753 and GSE262344) were harmonized to form a discovery cohort of 49 samples (39 MEC and 10 normal salivary gland tissues) comprising 19,565 genes. Candidate biomarkers were identified by intersecting WGCNA hub genes with differentially expressed genes identified within the same 8,000-gene expression subset and further refined through 100 resampling iterations, retaining genes selected in at least 60% of the iterations. Elastic-net, random forest, and linear support vector machine models were trained, and the final gene signature was externally validated in an independent RNA-seq cohort (GSE282430). Eleven genes were identified: HTN3, MUCL1, GPR45, PLIN5, PAIP2B, PART1, CD109, PIP, ABCC6, CSN1S1, and KLK1. This signature demonstrated strong discrimination between MEC and normal salivary gland tissue and showed good cross-platform reproducibility in an independent RNA-seq cohort. Functional enrichment analyses revealed downregulation of pathways associated with normal sensory and secretory salivary functions in MEC. These results support the potential diagnostic utility of an 11-gene biomarker panel for MEC. - Source: PubMed
Publication date: 2026/08/22
Belmabrouk SabrineAl-Rawi Natheer HashimHadj Kacem Hassen - ABCC6 (ATP-binding cassette subfamily C member 6) was initially identified as the disease gene for pseudoxanthoma elasticum, a disorder marked by ectopic mineralization. Beyond this classical role, emerging evidence supports ABCC6 as a liver-enriched transporter with broader metabolic relevance. ABCC6 promotes hepatocyte ATP (adenosine triphosphate)/ADP (adenosine diphosphate) release and supports ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)-dependent PPi (inorganic pyrophosphate) generation, thereby maintaining circulating anti-mineralization buffering; downstream AMP (adenosine monophosphate) metabolism may also influence adenosine-related signaling. Although its subcellular localization remains debated, evidence supports predominant basolateral plasma membrane localization, whereas one fractionation study reported enrichment at MAM (mitochondria-associated membranes) that has not been independently validated. ABCC6 deficiency has been associated with altered lipoprotein metabolism, mitochondrial bioenergetic impairment, oxidative stress, senescence-like phenotypes, and context-dependent metabolic susceptibility. These mitochondrial findings are interpreted as ABCC6 deficiency-associated downstream phenotypes rather than as evidence for stable mitochondrial or MAM residence. This review integrates established mineralization biology with emerging metabolic evidence, focusing on the extracellular nucleotide-PPi pathway, downstream adenosine-related signaling, mitochondrial stress, lipid and cholesterol handling, and vascular complications. We also discuss therapeutic strategies aimed at restoring PPi availability, limiting calcification, or recovering ABCC6 expression and function. - Source: PubMed
Publication date: 2026/08/22
Yang LingjuanZhang FangsichengDuan YiluLi YingTang JiayiZhao XinyuanWang Xiaoke - Pseudoxanthoma elasticum (PXE) is a rare inherited disorder characterized by progressive ectopic calcification of soft connective tissues, including skin, arteries, and eyes, leading to significant morbidity. PXE results from loss of functional ABCC6, a liver specific ATP efflux conduit. Reduced ATP release into the circulation limits its conversion into AMP and the mineralization inhibitor pyrophosphate (PPi). Consequently, low plasma PPi levels drive ectopic calcification in PXE. Although oral PPi supplementation can inhibit ectopic calcification in Abcc6/ mice, impractically high doses are needed, due to its rapid hydrolysis in the gastrointestinal tract. Here, we evaluated phosphocitrate, an exceedingly more potent mineralization inhibitor, in vitro and in Abcc6/ mice. In ATDC5 cells, 1 μM phosphocitrate significantly inhibited mineralization following induction, comparable to approximately tenfold higher concentrations of PPi. In vivo, daily intraperitoneal administration of phosphocitrate (4.7 μmol/kg bw) markedly reduced calcification in muzzle skin and kidneys, whereas an at least fivefold higher dose of PPi was needed to achieve a similar effect. Oral administration required substantially higher doses of both compounds (~2.4 mmol/kg bw), but PC remained more effective than PPi at inhibiting soft tissue calcification in Abcc6/ mice. Importantly, unlike PPi, oral phosphocitrate did not adversely affect skeletal strength or stiffness, even at supraphysiological doses. In summary, phosphocitrate is a more potent inhibitor of ectopic calcification than PPi in Abcc6/ mice. While optimization of oral delivery remains necessary, its increased potency supports the potential of alternative administration routes, including subcutaneous delivery, as a practical therapeutic strategy for PXE. - Source: PubMed
Publication date: 2026/07/16
Rajpar IbtesamShao ChristinaNg CelinaNiaziorimi FatemehBeiriger JacobTurhanen Petrivan de Wetering Koen - Cerebral small vessel diseases (CSVDs) are a group of disorders affecting the small arteries, veins, and capillaries supplying the white matter and deep grey matter structures. They are the most common form of cerebrovascular disease, accounting for approximately half of vascular dementia cases and 20% of stroke incidence. Whilst genetic testing is a routine diagnostic tool for monogenic CSVDs, less than 20% of patients have a causal variant in known CSVD genes. We performed whole exome sequencing on 117 patients suspected of monogenic CSVD who previously tested negative for pathogenic variants in seven well-characterised CSVD genes (NOTCH3, HTRA1, COL4A1, COL4A2, TREX1, GLA, and FOXC1). Targeted analysis was conducted on known and associated CSVD genes, as well as candidate genes which cause conditions with overlapping symptomology to CSVD. Burden analysis focussing on rare, functional variants was used to identify novel associations when compared against a cohort of 1035 non-neurological controls. We identified 18 suspected disease-causing variants across nine CSVD-associated genes and a significant burden of both rare and rare, likely disease-causing heterozygous variants in ABCC6. Two genes from stroke and neurodegenerative disease gene panels also possessed a significant burden of rare, likely disease-causing variants, MYH11 (adjusted P = 1 × 10) and NOTCH1 (adjusted P = 1 × 10). We further identified novel associations for seven genes (COL7A1, HMCN1, LAMA1, MMP9, TENM4, TNC, TTN) with monogenic CSVD in this cohort. Our findings implicate several genes as potentially causal of monogenic CSVD, highlighting the need for more extensive genetic screening in suspected CSVD cases, and functional characterisation of implicated variants to determine their mechanistic role in CSVD pathogenesis. - Source: PubMed
Publication date: 2026/07/21
Guyler Solomon KAlfayyadh Mohammed MMaksemous NevenLea Rodney ASmith Robert ASutherland Heidi GGriffiths Lyn R