ⓘ ASAH1

                                     

ⓘ ASAH1

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.

                                     
  • Spencer, a Native American painter N - acylsphingosine amidohydrolase acid ceramidase an enzymatic product of ASAH1 gene mutated in Farber disease
  • ceramidase ASAH1 cell survival neutral ceramidase ASAH 2, ASAH 2B, ASAH 2C protective against inflammatory cytokines alkaline ceramidase 1 ACER 1 mediating
  • associated with a missense mutation c.125C T or deletion in exon 2 of the ASAH1 gene and is inherited in an autosomal recessive manner. SMA - PME is closely
  • non - lysosomal ceramidase 2B or ASAH 2B is a ceramidase enzyme which in humans is encoded by the ASAH 2B gene. ASAH 2B shows reduced expression with increasing
  • Neutral ceramidase is an enzyme that in humans is encoded by the ASAH 2 gene. GRCh38: Ensembl release 89: ENSG00000188611 - Ensembl, May 2017 GRCm38: Ensembl
  • amidohydrolase 2C or non - lysosomal ceramidase C or ASAH 2C is a ceramidase enzyme which in humans is encoded by the ASAH 2C gene. Human PubMed Reference: National
  • signs and symptoms of this disorder. It is associated with a deficiency in ASAH1 Disease onset is typically in early infancy but may occur later in life
  • Lik Amin Asah is a Mon language chronicle that strictly covers the legendary early history of its kings and founding of the city of Hanthawaddy Pegu Bago
  • the othe rhand, NAAA is homologous to acid ceramidase HUGO gene symbol: ASAH1 sharing 30 sequence identity at the amino acid level in humans ENSEMBL
  • Kiowa artists from Oklahoma in the early 20th century. They were Spencer Asah James Auchiah, Jack Hokeah, Stephen Mopope, Lois Smoky, and Monroe Tsatoke
  • psychology and environmental studies. The editor - in - chief is Stanley T. Asah University of Washington It was established in 1969 and is published by
  • included six artists: Spencer Asah James Auchiah, Jack Hokeah, Stephen Mopope, Lois Smoky and Monroe Tsatoke. In 1926 Asah Hokeah, Tsatoke, Mopope, and