Web29 mar 2024 · ASAH1 as a pivotal regulator of steroidogenic capacity in the human adrenal cortex. down-regulation of aCDase alone or in combination with DTIC may represent a useful tool in the treatment of metastatic melanoma. This study supports that the ASAH1 gene may be a potential candidate gene for schizophrenia in Han Chinese subjects. Web5 feb 2016 · Quantitative lipidomics on fibroblasts from patients with mutations in GBA , GALC , ASAH1 , or LYST revealed conservation of the circular organization of lipid …
Asah1 Mouse Gene Details N-acylsphingosine amidohydrolase 1 ...
Web13 feb 2024 · Lysosomal storage disorder. Gene: ASAH1 WebFarber lipogranulomatosis OMIM:228000; Farber lipogranulomatosis MONDO:0009218; Green ASAH1 in Undiagnosed metabolic disorders Level 3: ... OMIM:159950; Green ASAH1 in DDG2P Version 3.2 Latest signed off version: v3.1 (22 Mar 2024) Component of the following Super Panels: Paediatric disorders; jefferson caminhoes sama
ASAH1 Gene - Somatic Mutations in Cancer - Wellcome Sanger …
Web4 ott 2024 · ASAH1 613468 Clinical Synopsis Toggle Dropdown PheneGene Graphics Linear Radial INHERITANCE - Autosomal recessive [SNOMEDCT: 258211005][UMLS: … Web1 nov 2024 · Globoid cell leukodystrophy or Krabbe disease (KD) (OMIM 245200) is an inherited demyelinating disorder caused by a deficiency of galactosylceramidase (GALC; EC 3.2.1.46), which leads to the accumulation of its substrates galactosylceramide (GalCer) and galactosylsphingosine (also known as psychosine) in myelin-producing cells ( Wenger et … Web28 mar 2016 · ASAH1:N-acylsphingosine amidohydrolase 1 [Gene - OMIM - HGNC] Variant type: single nucleotide variant Cytogenetic location: 8p22 Genomic location: Chr8: 18073263 (on Assembly GRCh38) Chr8: 17930772 (on Assembly GRCh37) Preferred name: NM_177924.5(ASAH1):c.126-1873G>A HGVS: oxfordshire makaton