2024年12月24日 · ASAH1 (N-Acylsphingosine Amidohydrolase 1) is a Protein Coding gene. Diseases associated with ASAH1 include Farber Lipogranulomatosis and Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy. Among its related pathways are Sphingolipid metabolism and Innate Immune System.

ASAH1 expression is upregulated following radiation, suggesting it plays a role in conferring radioresistance to glioblastoma and in the development of recurrent glioblastoma. [10]

2018年3月29日 · ASAH1-related disorders comprise a spectrum that ranges from Farber disease (FD) to spinal muscular atrophy (SMA) with or without epilepsy. ASAH1-related disorders vary in the age of onset of manifestations, the systems

关于 asah1 Cytogenetic location: 8p22 Genomic coordinates (GRCh38): 8:18,055,992-18,084,961 (from NCBI) This gene has 68 transcripts (splice variants), 221 orthologues, 1 paralogue and is associated with 6 phenotypes.

2024年9月24日 · ASAH1（酸性神经氨酰酶1，acid ceramidase）是人类体内一个重要的酶，主要负 责水解神经酰胺生成神经酰胺和脂肪酸。 ASAH1参与多种生理过程，包括细胞代

2018年9月25日 · Here, we show that the acid ceramidase ASAH1, which controls sphingolipid metabolism, acted as a rheostat of the phenotypic switch in melanoma cells.

2025年2月8日 · ASAH1 inhibition synergistically sensitizes lung cancer cells resistant to the antiproliferative effect of choline kinase alpha inhibitors. Our results reveal a wide phenotypic spectrum associated with ASAH1 mutations in spinal muscular atrophy associated with progressive myoclonal epilepsy.

The ASAH1 gene provides instructions for making an enzyme called acid ceramidase. This enzyme is found in lysosomes, which are cell compartments that digest and recycle materials. Within lysosomes, acid ceramidase breaks down fats (lipids) called ceramides.

酸性神经酰胺酶(N—acylsphingosineamidohydrolase1,ASAH1)是鞘脂代谢的关键酶,其水解神经酰胺,生成鞘氨醇,继而代谢为鞘氨醇-1-磷酸(sphin-gosine-1-phosphate,S1P)。 神经酰胺是鞘磷脂代谢中心分子,传递生长阻滞与凋亡。

2024年12月10日 · Clinical resource with information about ASAH1, A genome-wide association study on obesity and obesity-related traits., Farber lipogranulomatosis, Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, and available tests.