2024年12月24日 · CA8 (Carbonic Anhydrase 8) is a Protein Coding gene. Diseases associated with CA8 include Spinocerebellar Ataxia, Autosomal Recessive 34 and Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1. Among its related pathways is PKC-gamma calcium signaling pathway in ataxia.

Carbonic anhydrase-related protein is a protein that in humans is encoded by the CA8 gene. [5][6] The CA8 protein lacks the catalytic activity of other carbonic anhydrase enzymes. [7] .

《卡门》（法語： Carmen， 法语发音： [kaʁ.mɛn]），是 法国 作曲家 乔治·比才 于1874年创作的一部四幕 歌剧。 由 亨利·梅拉克 （英语：Henri Meilhac） 及 吕多维克·阿莱维 （英语：Ludovic Halévy） 作 词。 这部歌剧改编自 普罗斯佩·梅里美 的 同名中篇小说 （英语：Carmen (novella)）。 1875年3月3日，該部歌劇首次在 巴黎 的 喜歌剧院 上演，但劇情內容卻令公众难以接受。 《卡门》第33次演出后，比才猝然长逝。 在他去世十年后，《卡门》才获得国际赞 …

具有神经缺陷的小鼠 lurcher 突变体的小脑中 CA8 基因转录的缺失表明这种非催化形式的重要作用。 该基因的突变与小脑性共济失调、智力低下和平衡失调综合征 3 (CMARQ3) 有关。 该基因的多态性与骨质疏松症有关，该基因在骨肉瘤细胞中的过度表达表明其具有致癌作用。 可变剪接导致多个转录本变体。 [RefSeq 提供，2016 年 3 月] The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known Carbonic Anhydrase …

Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with …

2020年4月16日 · Human carbonic anhydrase 8 (CA-VIII) is an acatalytic isoform of the α -CA family. Though the protein cannot hydrate CO 2, CA-VIII is essential for calcium (Ca 2+) homeostasis within the body, and achieves this by allosterically inhibiting the binding of inositol 1,4,5-triphosphate (IP 3) to the IP 3 receptor type 1 (ITPR1) protein.

2025年2月8日 · Reversion mutation of cDNA CA8-204 minigene construct produces a truncated functional peptide that regulates calcium release in vitro and produces profound analgesia in vivo. Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.

CARP VIII is an intriguing protein and is widely distributed and evolutionarily well-conserved across the species. It is mainly expressed in the Purkinje cells of cerebellum and in wide variety of other tissues both in mouse and human.

Carbonic anhydrase 8 (CA8), an isozyme of α-carbonic anhydrases, lacks the ability to catalyze the reversible hydration of CO 2 to bicarbonate and proton. Previous studies have shown that single point mutations of CA8, CA8-S100P, and CA8-G162R, are associated with novel syndromes including congenital ataxia and mild cognitive impairment.

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