ASAH1

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N-acylsphingosine amidohydrolase (acid ceramidase) 1
Identifiers
Symbols ASAH1 ; AC; ACDase; ASAH; PHP; PHP32; SMAPME
External IDs OMIM613468 MGI1277124 HomoloGene10504 ChEMBL: 5463 GeneCards: ASAH1 Gene
EC number 3.5.1.23
RNA expression pattern
PBB GE ASAH1 210980 s at tn.png
PBB GE ASAH1 213702 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 427 11886
Ensembl ENSG00000104763 ENSMUSG00000031591
UniProt Q13510 Q9WV54
RefSeq (mRNA) NM_001127505 NM_019734
RefSeq (protein) NP_001120977 NP_062708
Location (UCSC) Chr 8:
17.91 – 17.94 Mb
Chr 8:
41.34 – 41.37 Mb
PubMed search [1] [2]

Acid ceramidase is an enzyme that in humans is encoded by the ASAH1 gene.[1][2][3]

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.[4] Two transcript variants encoding distinct isoforms have been identified for this gene.[3] In melanocytic cells ASAH1 gene expression may be regulated by MITF.[5]

References[edit]

  1. ^ Koch J, Gartner S, Li CM, Quintern LE, Bernardo K, Levran O, Schnabel D, Desnick RJ, Schuchman EH, Sandhoff K (Jan 1997). "Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease". J Biol Chem 271 (51): 33110–5. doi:10.1074/jbc.271.51.33110. PMID 8955159. 
  2. ^ Li CM, Park JH, He X, Levy B, Chen F, Arai K, Adler DA, Disteche CM, Koch J, Sandhoff K, Schuchman EH (Feb 2000). "The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression". Genomics 62 (2): 223–31. doi:10.1006/geno.1999.5940. PMID 10610716. 
  3. ^ a b "Entrez Gene: ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1". 
  4. ^ Zhou, J.; Tawk, M.; Tiziano, F. D.; Veillet, J.; Bayes, M.; Nolent, F.; Garcia, V.; Servidei, S.; Bertini, E.; Castro-Giner, F.; Renda, Y.; Carpentier, S. P.; Andrieu-Abadie, N.; Gut, I.; Levade, T.; Topaloglu, H.; Melki, J. (2012). "Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy is Caused by Mutations in ASAH1". The American Journal of Human Genetics 91 (1): 5–14. doi:10.1016/j.ajhg.2012.05.001. PMC 3397266. PMID 22703880.  edit
  5. ^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 

Further reading[edit]