LMPD Database

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LMP006758

UniProt Annotations

Entry Information
Gene NameN-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B
Protein EntryASA2B_HUMAN
UniProt IDP0C7U1
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P0C7U1-1; Sequence=Displayed; Name=2; IsoId=P0C7U1-2; Sequence=VSP_056938; Note=No experimental confirmation available;
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P0C7U1-1; Sequence=Displayed; Name=2; IsoId=P0C7U1-2; Sequence=VSP_056938; Note=No experimental confirmation available;
CautionIn contrast to other members of the family, ASAH2B has no predicted transmembrane domain, and lacks the active site, suggesting that it may be catalytically inactive.
CautionIn contrast to other members of the family, ASAH2B has no predicted transmembrane domain, and lacks the active site, suggesting that it may be catalytically inactive. {ECO:0000305}.
MiscellaneousASAH2B/ASAH2L is a partial paralog of ASAH2, resulting from a partial duplication of ASAH2 on chromosome 10. It has a polymorphic start codon with a single nucleotide change of the original ASAH2 sequence plus other putative translation start site that might lead to several potential ORFs.
SimilarityBelongs to the neutral ceramidase family.
SimilarityBelongs to the neutral ceramidase family. {ECO:0000305}.
Tissue SpecificityUbiquitous. Expression is reduced with increasing age and in late-onset Alzheimer disease (LOAD) patients. This reduction is even more pronounced in patients with an affected mother.
Tissue SpecificityUbiquitous. Expression is reduced with increasing age and in late-onset Alzheimer disease (LOAD) patients. This reduction is even more pronounced in patients with an affected mother. {ECO:0000269|PubMed:17334805}.