ASAH1

Acid ceramidase is an enzyme that in humans is encoded by the ASAH1 gene.

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 and, recently, with a rare neurodegenerative condition known as spinal muscular atrophy with progressive myoclonic epilepsy. Two transcript variants encoding distinct isoforms have been identified for this gene. In melanocytic cells ASAH1 gene expression may be regulated by MITF.

单词	Acid ceramidase
释义	Acid ceramidase 英语百科 ASAH1 Acid ceramidase is an enzyme that in humans is encoded by the ASAH1 gene. 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 and, recently, with a rare neurodegenerative condition known as spinal muscular atrophy with progressive myoclonic epilepsy. Two transcript variants encoding distinct isoforms have been identified for this gene. In melanocytic cells ASAH1 gene expression may be regulated by MITF.
随便看	Needletail的意思 needletails的意思 needle talk的意思 needle tapestry的意思 needle tear的意思 needle teeth的意思 needle telegraph的意思 needle test point的意思 needle therapy的意思 needle thermocouple的意思 needle thread的意思 Needle threader的意思 needle threaders的意思 needle threading device的意思 needle thread, lower thread的意思 needle through的意思 needle throw的意思 needle thrust bearing的意思 needle timber的意思 Needle time的意思 needletime的意思 needletimes的意思 needle tin ore的意思 needle tip的意思 needle trace的意思