Asah1
WebThis publication includes mutations in ASAH1 collected through the Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber … WebASAH1 INFORMATION. Proteini. Full gene name according to HGNC. N-acylsphingosine amidohydrolase 1. Gene namei. Official gene symbol, which is typically a short form of the gene name, according to HGNC. ASAH1 (AC, ACDase, ASAH, FLJ21558, PHP32) Protein classi. Assigned HPA protein class (es) for the encoded protein (s).
Asah1
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Web26 lug 2024 · ASAH1 is ubiquitously expressed, with highest expression in the heart and kidney. 31 Increased ASAH1 expression has been reported in the aging kidney, 32 while lack of ceramidase activity in the ... WebAcid ceramidase (ASAH1) represses steroidogenic factor 1-dependent gene transcription in H295R human adrenocortical cells by binding to the receptor Lucki NC et al Mol Cell Biol 2012;32(21):4419-31: Silencing diacylglycerol kinase-theta expression reduces steroid hormone biosynthesis and cholesterol metabolism in human adrenocortical cells
Web9 feb 2024 · Abstract Farber disease is a rare lysosomal storage disorder resulted from mutations in the ASAH1 gene codes acid ceramidase. The present study aimed to analyze the possible effect of amino acid substitutions caused by missense single nucleotide polymorphisms (SNP) on the acid ceramidase structure, stability and function via in … WebDescription: Homo sapiens N-acylsphingosine amidohydrolase 1 (ASAH1), transcript variant 1, mRNA. (from RefSeq NM_177924) RefSeq Summary (NM_177924): This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically …
WebAcid ceramidase (ASAH1) is a global regulator of steroidogenic capacity and adrenocortical gene expression. Lucki NC et al. Mol Endocrinol 2012;26(2):228-43. Acid ceramidase … The ASAH1 gene encodes in humans the acid ceramidase enzyme. This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the … Visualizza altro ASAH1 expression is upregulated following radiation, suggesting it plays a role in conferring radioresistance to glioblastoma and in the development of recurrent glioblastoma. Inhibiting the activity of … Visualizza altro • Human ASAH1 genome location and ASAH1 gene details page in the UCSC Genome Browser. Visualizza altro • Perry DK, Hannun YA (December 1998). "The role of ceramide in cell signaling". Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1436 (1–2): 233–43. Visualizza altro
WebAnti-ASAH1 Antibody is a highly specific rabbit polyclonal antibody, that targets ASAH1 & has been tested in western blotting, IHC & Immunofluorescence. Immunohistochemistry Analysis: A 1:1,000 dilution from a representative lot detected ASAH1 in human cardiac myocytes and kidney tissues. Immunofluorescence Analysis: 20 µg/mL from a ...
Web1 feb 2012 · ASAH1 is a glycoprotein processed from a 55-kDa precursor via autoproteolytic cleavage into a mature heterodimeric enzyme formed by an α-subunit (13 kDa) and a β … fish right program philippinesWebASAH1 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, ASAH1 Genome Browser, ASAH1 References. ASAH1 - Explore an overview of ASAH1, with a histogram displaying coding mutations, full tabulated details of all associated variants, tissue distribution and any drug resistance data. candlestick buffet table lampsWebObjective: Metabolic deregulation is a key hallmark of cancer cells and has been shown to drive cancer growth and metastasis. However, not all metabolic drivers of melanoma are known. Based on our finding that N-acylsphingosine amidohydrolase 1 (ASAH1) is overexpressed in melanoma, the objective of these studies was to establish its role in … candlestick bullish haramiWeb29 mar 2024 · ASAH1 -related disorders are inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a … fish rimworldWeb25 set 2024 · Acid ceramidase ASAH1 is expressed in melanoma cells. a Heatmap showing the expression of genes in the invasive (red group) and proliferative (blue group) cells. … fish rigsWeb14 lug 2024 · ASAH1:N-acylsphingosine amidohydrolase 1 [Gene - OMIM - HGNC] Variant type: single nucleotide variant Cytogenetic location: 8p22 Genomic location: Chr8: 18069818 (on Assembly GRCh38) Chr8: 17927327 (on Assembly GRCh37) Preferred name: NM_177924.5(ASAH1):c.277A>G (p.Ile93Val) HGVS: fish rightsWeb7 nov 2024 · ASAH1 is identified as a de novo glioblastoma drug target, and ASAH1 inhibitors, such as carmofur, are shown to be highly effective and to specifically target glioblastoma GSCs. Carmofur is an ASAH1 inhibitor that crosses the blood-brain barrier, a major bottleneck in glioblastoma treatment. candlestick cartoon png