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
- Generalized Arterial Calcification of Infancy (GACI) is a rare genetic vascular disease characterized by the early onset (between in utero and infancy) of extensive calcification and stenosis of the large and medium-sized arteries. Presentation is typically with respiratory distress, congestive heart failure, and systemic hypertension. With approximately 300 cases reported worldwide in the medical literature. The prevalence is unknown; however, based on the carrier frequency of the recognized pathogenic variants, a frequency of 1 in 200,000 has been suggested. The autosomal recessive form of GACI disorder is caused by mutations in the ENPP1 or ABCC6 genes. To the best of our knowledge, this study represents the first genetically confirmed case of GACI in an Egyptian fetus detected during the perinatal period. In this report, we describe a case of GACI in a fetus with a pathogenic ENPP1 gene mutation at 29 weeks of gestation. Ultrasound examination revealed aortic and pulmonary valve stenosis, biventricular hypertrophy, and a hypercalcified aorta and ductal arch. Genetic testing identified a homozygous pathogenic variant in the ENPP1 gene: c.749C>T (p.Pro250Leu). In conclusion, early diagnosis of GACI is vital due to its severe prognosis and early symptom onset. Expert fetal echocardiography plays a key role in detecting arterial calcification during pregnancy. Genetic testing enhances diagnostic accuracy, informs treatment strategies, and supports family counselling. - Source: PubMed
Publication date: 2026/06/27
Tarek AlshaimaaTohamy WaelHany HananKhalifa Mohamed KGaber Khaled R - Pseudoxanthoma elasticum (PXE) is a rare genetic disease characterized by ectopic calcification in the eyes, skin, and arteries. It is caused by pathogenic variants in the ABCC6 gene and leads to reduced plasma levels of inorganic pyrophosphate. Etidronate, a stable analogue of pyrophosphate, has been shown to reduce arterial calcification. However, the long-term skeletal safety of high-dose cyclical etidronate treatment remains unclear. This study aimed to evaluate the skeletal effects of cyclical etidronate administration in adults aged ≥50 years with PXE. This prospective study included patients treated with etidronate (20 mg/kg/day for 14 days every 12 weeks) for ≥1 year and untreated control patients from the Dutch Expertise Center for PXE. Bone density (BD) was measured on whole-body low-dose CT scans in Hounsfield units at the spine and femoral necks. Safety was assessed using bone turnover markers and fracture data. BD changes were compared within treated patients and between the treated and control groups using scanner-adjusted linear mixed models. In total, 71 treated patients (mean age 57.0 ± 7.6 years; 56% female) and 72 untreated patients (mean age 54.2 ± 11.0 years; 69% female) were included. Median etidronate follow-up duration was 5.2 years (IQR 5.1-7.5). Of the 71 treated patients, 66 (93%) completed 5 years of follow-up, and all treated patients completed at least 2.5 years of treatment. In the treated group, BD remained stable during treatment, whereas in the untreated group it declined substantially, resulting in a greater overall loss in the untreated group compared to the treated group. Non-vertebral fracture incidence was low and comparable to controls, and no atypical femur fractures, excessive suppression of bone turnover markers, or medication-related osteonecrosis of the jaw were observed. This study demonstrates that cyclical administration of high-dose etidronate to patients aged ≥50 years with PXE for 5 years did not negatively affect skeletal integrity and metabolism and prevented bone loss at both the spine and the hip. - Source: PubMed
Publication date: 2026/09/15
Haverkamp Melanievan Weert Aart-JanFoppen WouterBunk StijnVisseren Frank L JBeg Mirza FaisalPopuri KarteekPapapoulos Socrates ESpiering Wilkode Jong Pim A - 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