2024年12月24日 · ABCB6 (ATP Binding Cassette Subfamily B Member 6 (LAN Blood Group)) is a Protein Coding gene. Diseases associated with ABCB6 include Dyschromatosis Universalis Hereditaria 3 and Microphthalmia/Coloboma 7. Among its related pathways are Autodegradation of the E3 ubiquitin ligase COP1 and Disorders of transmembrane transporters.

ATP-binding cassette super-family B member 6, mitochondrial is a protein that in humans is encoded by the ABCB6 gene. [5][6][7] The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes.

2021年7月27日 · ABCB6 plays a crucial role in energy-dependent porphyrin transport, drug resistance, toxic metal resistance, porphyrin biosynthesis, protection against stress, and encoding a blood group...

2025年2月8日 · Targeted sequencing of ABCB6 in 12 unrelated individuals of the Lan(-) blood type identified 10 different ABCB6 null mutations. The results demonstrated that ABCB6 mutations cause ocular coloboma. Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea ...

该基因编码 ATP 结合盒 (ABC) 转运蛋白超家族的成员。 ABC 蛋白可跨细胞外膜和细胞内膜转运各种分子。 这种蛋白质是重金属进口子家族的成员，在卟啉转运中发挥作用。 该基因是 Langereis (Lan) 血型抗原的分子基础，该基因的突变是家族性假性高钾血症和遗传性普遍色素沉着症的基础。 [RefSeq 提供，2017 年 3 月] This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra …

2024年5月31日 · ATP-binding cassette transporter B6 (ABCB6) is a homodimeric Type IV half-transporter comprising a single transmembrane domain (TMD) and a nucleotide-binding...

2017年11月30日 · ABCB6 is a broad-spectrum porphyrin transporter that is capable of both exporting and importing heme and its precursors across the plasma membrane and outer mitochondrial membrane, respectively. Biochemical studies have demonstrated that while ABCB6 influences the antioxidant system by reducing the levels of reactive oxygen species, the exact ...

Recent findings have discovered how insufficiency of ATP-binding cassette (ABC) transporter, ABCB6 can negatively impact human health. These advances were made possible by, first finding that ABCB6 deficiency was the genetic basis for some severe ...

ABCB6是人源ABC转运蛋白ABCB亚家族成员，是一种广谱卟啉化合物转运蛋白。 ABCB6一方面定位在线粒体外膜上，转运粪卟啉原Ⅲ进入线粒体，进一步合成血红素;另一方面定位在细胞质膜上，转运血红素及其它卟啉类化合物到细胞外、调控卟啉病的严重程度、并作为唯一抗原决定簇决定人体的LAN血型等。 此外，ABCB6转运蛋白还可能参与了某些有毒离子的解毒作用，并且与多种肿瘤细胞的耐药性形成等现象相关。 ABCB6转运蛋白... 血红素是生命体内铁元素的一种重要 …

2024年4月7日 · ABCB6 knockdown suppresses melanogenesis through the GSK3-β/β-catenin signaling axis in human melanoma and melanocyte cell lines. She Q, Dong Y, Li D, An R, Zhou T, Nie X, Pan R, Deng YShe Q, et al. J Dermatol Sci, 2022 May. PMID 35461746; ABCB6 polymorphisms are not overly represented in patients with porphyria.