ABCC6 ELISA kit
- Known as:
- ABCC6 Enzyme-linked immunosorbent assay test reagent
- Catalog number:
- DL-ABCC6-Mu
- Product Quantity:
- 96T
- Category:
- Elisa Kits
- Supplier:
- WDSTD
- Gene target:
- ABCC6 ELISA kit
Related genes to: ABCC6 ELISA kit
- 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
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- Source: PubMed
- Generalized arterial calcification of infancy (GACI) is a rare, autosomal recessive disorder caused by pathogenic variants in or . While typically fatal in infancy, survival into childhood is increasingly recognized. We report a family with 3 affected siblings homozygous for an variant (c. , p.). The oldest died in infancy, the surviving 2 received early bisphosphonate therapy. Both survivors demonstrate persistent vascular calcifications, early-onset pseudoxanthoma elasticum (PXE)-like skin lesions, and chronic hypophosphatemia without radiographic rickets. Uniquely, this report contrasts the clinical course of a late preterm sibling against a sibling born extremely premature. Additional findings include auricular cartilage, renal and retinal calcifications, highlighting the systemic nature of ENPP1 deficiency. Our report expands the phenotypic spectrum of -related GACI. - Source: PubMed
Publication date: 2026/05/14
Resnick OrtalAshraf Ambika - Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by pathogenic variants in ABCC6, leading to progressive calcification of elastic fibers. Although PXE typically presents in adolescence with dermatologic or ocular manifestations, early vascular involvement, including pediatric hypertension, is increasingly recognized. We report a 3-year-old boy referred for evaluation of persistent erythrocytosis of unclear etiology. Clinical, biochemical, and hematologic assessments revealed intermittent reticulocytosis, normal oxygen saturation, and suppressed/normal erythropoietin levels. Long-term zinc supplementation initiated in infancy for suspected dermatitis enteropathica preceded the onset of erythrocytosis. At age eight, severe systemic hypertension was diagnosed together with medullary nephrocalcinosis and splenic and pancreatic calcifications. Imaging excluded renal artery stenosis. Whole-exome sequencing identified compound heterozygous pathogenic ABCC6 variants, establishing the diagnosis of PXE. Ophthalmologic examination revealed peau d'orange. Blood pressure control required combination antihypertensive therapy and was associated with partial normalization of red blood cell (RBC) parameters and a marked increase in plasma renin activity. RBC enzymatic profiling demonstrated metabolic adaptations consistent with oxidative stress. This case illustrates an unusual clinical presentation of PXE in early childhood. We propose that erythrocytosis, potentially promoted by zinc supplementation, may have contributed to early vascular stress and hypertension. Later, renal microvascular calcification and renin-angiotensin-aldosterone system activation may have contributed to the persistence of elevated RBC counts despite low erythropoietin. These observations suggest that PXE may be considered in the differential diagnosis of children with unexplained hypertension, particularly when additional systemic findings are present. - Source: PubMed
Flogelova HanaPospisilova DagmarBakaj-Zbrozkova LenkaSochorcova LucieManakova JirinaKriegova EvaKoralkova PavlaHlusickova Kapralova KatarinaHorvathova Monika - Pseudoxanthoma elasticum (PXE) is a progressive hereditary disease caused by the calcification and degeneration of elastic fibers, affecting the skin, retina, blood vessels, and gastrointestinal tracts. The gene responsible is the ATP-binding cassette subfamily C member 6 (). - Source: PubMed
Publication date: 2026/02/27
Fukuta AkihiroIwata YoheiYasuda RenaIwanaga AkiraMurota HiroyukiSugiura Kazumitsu - Monogenic causes of nephrolithiasis and nephrocalcinosis are relatively common but underdiagnosed. Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease that causes progressive ectopic calcium phosphate deposits throughout the body. PXE results from homozygous mutations in the ATP-binding cassette subfamily C member 6 () gene, which encodes an ATP transporter that is predominantly expressed in the liver but also expressed in the kidney proximal tubule. ABCC6 transports ATP extracellularly, where ectonucleotide pyrophosphatase/phosphodiesterase 1 metabolizes ATP into AMP and pyrophosphate (PP), an inhibitor of calcium crystallization. Loss-of-function mutations in are associated with low serum PP levels, leading to ectopic calcifications. PXE is associated with an increased risk of nephrolithiasis, but it is currently unknown if heterozygotes are also at risk. Herein, we presented 3 patients with recurrent nephrolithiasis who had relatively unremarkable risk factors but were found to have heterozygous mutations in patient 1 c.1685T>C (p.Met562Thr); patient 2 c.933C>A (p.Phe311Leu); and patient 3 c.3413G>A (p.Arg1138Gln). We proposed that heterozygous mutations are an unrecognized risk factor for nephrolithiasis. Development of a clinical assay to measure urinary PP may help identify people at risk of nephrolithiasis, elucidate the underlying mechanisms of recurrent nephrolithiasis, and potentially identify a therapeutic target to reduce stone burden. - Source: PubMed
Publication date: 2026/01/22
Farrell DouglasUribarri JaimePitman Tessa RLebwohl MarkRein Joshua L