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ASAH1 encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. Additionally we are shipping N-Acylsphingosine Amidohydrolase (Acid Ceramidase) 1 Antibodies (76) and N-Acylsphingosine Amidohydrolase (Acid Ceramidase) 1 Kits (6) and many more products for this protein.
Showing 9 out of 12 products:
Human ASAH1 Protein expressed in Wheat germ - ABIN4948350
Sabel, Liu, Griffith, He, Xie, Lubman: Clinical utility of serum autoantibodies detected by protein microarray in melanoma. in International journal of proteomics 2011
Acid ceramidase plays a critical role in acute myeloid leukemia (show BCL11A Proteins) cell survival via regulation of both sphingolipid levels and Mcl-1 (show MCL1 Proteins).
Collectively, our data show the novel discovery of anti-inflammatory and anti-apoptotic effects of acid ceramidase in host cells exposed to periodontal bacteria, and the attenuation of the expression of host-protective acid ceramidase in periodontal lesions.
we describe an individual with a sporadic atypical spinal muscular atrophy, in whom clinical DNA sequencing reported one pathogenic ASAH1 mutation .Transcriptome sequencing on patient leukocytes identified a highly significant and atypical ASAH1 isoform not explained by c.458A>G(p<10(-16) ).
ASAH1 variant Leu401Pro co-segregates with keloid phenotype in a large Yoruba family.
We report an atypical presentation of Farber disease with her pathology and associated genetic defect. This case expands the phenotypic spectrum of Farber disease to include novel mutations of ASAH1, which pose a diagnostic challenge.
This study describes for the first time the association between ASAH1 variants and an adult SMA (show SMN1 Proteins) phenotype with no myoclonic epilepsy nor death in early age, thus expanding the phenotypic spectrum of ASAH1-related SMA (show SMN1 Proteins).
Our findings indicate that hypomorphic mutations in ASAH1 may result in an osteoarticular phenotype with a juvenile phase resembling rheumatoid arthritis that evolves to osteolysis as the final stage in the absence of neurologic signs. This observation delineates a novel type of recessively inherited peripheral osteolysis and illustrates the long-term skeletal manifestations of acid ceramidase deficiency (Farber's disease
The present report describes a 9-year-old girl with novel clinical phenotype of a patient with polyarticular arthritis followed by symptoms of SMA due to acid ceramidase deficiency. Whole exome sequencing identified compound heterozygous pathogenic mutation in the N-acylsphingosine amidohydrolase 1 gene.
Data suggest up-regulation of ASAH1 activity by androgen in androgen-sensitive prostate cancer cells (not other cancer cells) is due to prolonged stability of ASAH1 by androgen-stimulated induction of USP2 (ubiquitin specific peptidase 2 (show USP2 Proteins)) expression.
Genetic or pharmacological acid ceramidase inhibition promotes cisplatin cytotoxicity in head and neck tumor cells.
cells deficient in acid ceramidase (aCDase) also exhibited defects in CCL5 (show CCL5 Proteins) induction, whereas cells deficient in sphingosine kinase-1 (show SPHK1 Proteins) and -2 exhibited higher levels of CCL5 (show CCL5 Proteins).
biochemistry of acid ceramidase reaction with acid sphingomyelinase (show SMPD1 Proteins)
Acid and neutral sphingomyelinase (show SMPD2 Proteins), ceramide synthase, and acid ceramidase have roles in cutaneous aging
These results provide the first characterization of the Acid Ceremidase promoter from any species and demonstrate that Kruppel-like factor 6 (KLF6 (show KLF6 Proteins)) is one transcription factor involved in the regulation of AC gene expression.
acid ceramidase is an essential factor required for embryo survival that functions by removing ceramide from the newly formed embryos, thus inhibiting the default apoptosis pathway
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 synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene.
, acid ceramidase
, acylsphingosine deacylase
, putative 32 kDa heart protein
, Acylsphingosine deacylase
, N-acylsphingosine amidohydrolase 1
, N-acylsphingosine amidohydrolase (acid ceramidase) 1