Dec 24, 2024 · CLN3 (CLN3 Lysosomal/Endosomal Transmembrane Protein, Battenin) is a Protein Coding gene. Diseases associated with CLN3 include Ceroid Lipofuscinosis, Neuronal, 3 and Neuronal Ceroid Lipofuscinosis. Among its related pathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Glycosphingolipid transport.

CLN3 disease is an inherited disorder that primarily affects the nervous system. After 4 to 6 years of normal development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen over time.

Sep 27, 2022 · 少年贝敦病是由编码一种叫做CLN3的蛋白的基因发生突变引起的，它是致命的，会导致儿童和年轻人的视力丧失、癫痫发作、进行性运动和智力退化。 CLN3蛋白存在于溶酶体的膜上，但没有人确定它在细胞中的功能，也没有人确定它的功能失调如何导致观察到的症状。 这些作者利用他们的LysoTag小鼠，发现携带CLN3致病突变的小鼠中一种叫做甘油磷酸二酯（glycerophosphodiester, GPD）的分子数量急剧增加。 GPD是在构成我们身体每个细胞膜的 …

CLN3 was discovered using linkage analysis in search for the disease causing gene (mutation) in 48 children with progressive vision loss, seizures, decline of intellect and loss of motor ability (Eiberg, Gardiner, & Mohr, 1989).

Oct 27, 2016 · Juvenile CLN3 disease is caused by changes (mutations) of the CLN3 gene and is inherited as an autosomal recessive trait. It is the most common form of NCL, is found worldwide, and is found particularly in families of Northern European or Scandinavian ancestry.

The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles.

CLN3 Batten disease is a fatal neurodegenerative, lysosomal storage disorder in children. Symptoms begin in early childhood and include vision loss, seizures, and loss of motor function. This disease has no effective, disease-altering treatment …

Sep 25, 2021 · CLN3 is a multipass transmembrane protein that primarily localizes to endosomes and lysosomes. Defects in endocytosis, autophagy, and lysosomal function are common findings in CLN3-deficiency model systems. However, the molecular mechanisms underlying these defects have not yet been fully elucidated.

该基因编码一种参与溶酶体功能的蛋白质。 这方面的突变以及其他神经元蜡样-脂褐质沉积症 (CLN) 基因会导致神经退行性疾病，通常称为 Batten 病或统称为神经元蜡样脂褐质沉积症 (NCL) 。 已发现该基因的许多选择性剪接转录物变体。 [RefSeq 提供，2008 年 7 月] This gene encodes a protein that is involved in lysosomal function.

Aug 17, 2024 · Juvenile neuronal ceroid-lipofuscinosis (JNCL), also called Spielmeyer-Vogt-Sjögren disease or CLN3, is the most common inherited, autosomal recessive, neurodegenerative disorder. It is characterized by progressive loss of vision, seizures, and loss of cognitive and motor functions, leading to premature demise.