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Immunogen sequence: IVAEDKKGHL IHGRNMDFGV FLGWNINNDT WVITEQLKPL TVNLDFQRNN KTVFKASSFA GYVGMLTGFK PGLFSLTLNE RFSINGGYLG ILEWILGKKD VMWIGFLTRT VLENSTSYEE AKNLLTKTKI LAPAYFILGG NQSGEGCVIT RDRKESLDVY ELDAKQGRWY VVQTNYDRWK HPFFLDDRRT PAKMCLNRTS QENISFETMY DVLSTKPVLN KLTVYTTLID VTKGQFETYL RDCPDPCIGW
ASAH1 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 processed. The processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene have been linked to the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. The related pathways include Innate Immune System and Sphingolipid metabolism. Diseases associated with ASAH1 include Farber Lipogranulomatosis and Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: AC; ACDase; acid CDase; Acid ceramidase; Acylsphingosine deacylase; N-acylethanolamine hydrolase ASAH1; N-acylsphingosine amidohydrolase; N-acylsphingosine amidohydrolase 1
基因别名: 2310081N20Rik; AC; Asah; Asah1
UniProt ID: (Mouse) Q9WV54, (Rat) Q6P7S1
Entrez Gene ID: (Mouse) 11886, (Rat) 84431