2024 Asah1 gene

Asah1 gene

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August undefined, 2024

Web14 lug 2024 · NM_177924.5(ASAH1):c.277A>G (p.Ile93Val) Gene: ASAH1:N-acylsphingosine amidohydrolase 1 [Gene - OMIM - HGNC] Variant type: single nucleotide variant Cytogenetic location: 8p22 ... It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2024), ... WebDisease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal …

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WebThis enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, … Web17 giu 2024 · A number of disease-causing gene CNVs have been described, including: (i) a gross deletion involving ASAH1 (g.728_18197del (c.126-3941_382 + 1358del) in a child with severe Farber disease ; (ii) a whole-gene deletion of ARSA in a patient with infantile Metachromatic Leukodystrophy ; (iii) two single-exon deletion involving GALC exon 12 … paola antonelli piaggio

ASAH1 gene: MedlinePlus Genetics

Web1 lug 2013 · Acid ceramidase (N-acylsphingosine amidohydrolase, AC, EC 3.5.1.23) is a soluble N-glycoprotein that catalyzes the lysosomal degradation of ceramide to sphingosine and fatty acid [1]. Human AC is synthesized in precursor form of 53–55 kDa and transported to the lysosome via the mannose-6-phosphate pathway [2]. WebTranscript and protein aligned (ENST00000381733.9+ASAH1) Gene fusions No fusions involving ASAH1 Drug sensitivity data n/a. External links. Links to bioinformatics resources that are related to ASAH1. OMIM 613468 Transcript ENST00000381733.9 Genome Browsers Ensembl, UCSC Copy Number CONAN NCBI Entrez Gene 427 CCDS … Web3 feb 2024 · In the present study, smooth muscle-specific acid ceramidase (Ac) gene knockout mice (Asah1 fl/fl /SM Cre) were used to demonstrate the role of lysosomal ceramide signaling pathway in AMC. Asah1 fl/fl /SM Cre mice were found to have more severe AMC in both aorta and coronary arteries compared to their littermates (Asah1 fl/fl … オアシススーパーソニック映画感想

Àcid ceramidasa - Viquipèdia, l

Web13 dic 2024 · Asah1 (P361R/P361R) mice exhibit progressive retinal and optic nerve pathology. Through noninvasive ocular imaging and histopathological analyses of these Asah1 (P361R/P361R) animals, we revealed progressive inflammation, the presence of retinal dysplasia, and significant storage pathology in various cell types in both the retina … WebAcid ceramidase (ASAH1) is a global regulator of steroidogenic capacity and adrenocortical gene expression. In H295R human adrenocortical cells, ACTH rapidly … オアシススージングマスク使い方Web30 mar 2016 · ASAH1 variants cause both the severe and early-onset Farber disease and rare cases of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy (SMA … paola antonelli design

"WebASAH1 is part of cluster 44 Heart - Cardiac muscle contraction with confidence i Confidence is the fraction of times a gene was assigned to the cluster in repeated clustering, and … " - Asah1 gene

Asah1 gene

ASAH1 protein expression summary - The Human Protein Atlas

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 … Web8 dic 2024 · ASAH1 N-acylsphingosine amidohydrolase 1 Gene ID: 427, updated on 8-Dec-2024 Gene type: protein coding Also known as: AC; PHP; ASAH; PHP32; ACDase; SMAPME See all available tests in GTR for this gene Go to complete Gene record for ASAH1 Go to Variation Viewer for ASAH1 variants Summary

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WebASAH1 (HGNC Symbol) UniProtKB This gene has proteins that correspond to the following UniProtKB identifiers: Q13510 CCDS This gene is a member of the Human CCDS set: CCDS47813.1, CCDS6005.1, CCDS6006.1 Ensembl version ENSG00000104763.13 Other assemblies This gene maps to 18,056,425-18,084,985 in GRCh38 coordinates. Gene … Web27 mag 2024 · Mutations in the ASAH-1 gene give rise to a rare group of genetic disorders that include Farber disease and spinal muscular atrophy with progressive myoclonic …

Web25 set 2024 · The data gathered here on the role of ASAH1 in melanoma cells highlighted genes and signaling cascades that might serve as new potential therapeutic targets in … WebFurthermore, PEDHC inhibited expression patterns of ASAH1 mRNA as well as some genes associated with degradation of the basement membranes and extracellular matrix, for example, MMP-2, ADAM-17 and ...

WebASAH1 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, ASAH1 Genome Browser, ASAH1 References ASAH1 - Explore an overview of ASAH1, with a … Web29 mar 2024 · Clinical Description. ASAH1 -related disorders comprise a spectrum that ranges from Farber disease (FD) to spinal muscular …

Web13 dic 2024 · Endothelium-specific acid ceramidase (AC) gene knockout mice (Asah1(fl/fl)/EC(cre)) significantly enhanced the formation and activation of NLRP3 … paola antonelli monzaWebLa ceramidasa àcida o enzim àcid ceramidasa (AC o aCDase), codificat pel gen ASAH1, és un enzim que hidrolitza la ceramida de la membrana lisosomal en un àcid gras i en esfingosina, part fonamental de tots els esfingolípids, per regular molts processos cel·lulars. La seva funció anormal condueix a la malaltia de Farber, atròfia muscular ... オアシススイミング大人WebASAH1-201 ENSP00000326970 ENST00000314146: Q13510 [Direct mapping] Acid ceramidase Acid ceramidase subunit alpha Acid ceramidase subunit beta. Show all. Enzymes ... Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage diseases オアシススーパー年末年始Web1 INTRODUCTION. Farber disease (FD) is an ultrarare inherited lysosomal storage disorder caused by mutations in the ASAH1 gene that encodes the lysosomal hydrolase acid ceramidase (N-acylsphingosine amidohydrolase 1, ACDase).ACDase normally catalyzes the degradation of bioactive ceramides (Cer) into sphingosine (SPH) and free fatty acids. オアシススーパーソニックギターhttp://img1.bioon.com/doc/showarticle.asp?newsid=112281 paola antonini accidentWeb3 feb 2024 · It was found that Asah1 gene deletion in SMCs markedly augmented aortic medial calcification relative to their littermates treated with high doses of Vit D (maximal increase in blood calcium... オアシスすWebTissue proteome. GENERAL INFORMATIONi. General description of the gene and the encoded protein (s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project. Gene namei. Official gene symbol, which is typically a short form of the gene name, according to HGNC . ASAH1. paola antonelli product designer female