ASAH2B
N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B | |||||||||||||
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Identifiers | |||||||||||||
Symbols | ASAH2B ; ASAH2C; ASAH2L; bA449O16.3; bA98I6.3 | ||||||||||||
External IDs | OMIM: 610987 IUPHAR: 2493 GeneCards: ASAH2B Gene | ||||||||||||
EC number | 3.5.1.23 | ||||||||||||
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Orthologs | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | 653308 | n/a | |||||||||||
Ensembl | ENSG00000204147 | n/a | |||||||||||
UniProt | P0C7U1 | n/a | |||||||||||
RefSeq (mRNA) | NM_001079516 | n/a | |||||||||||
RefSeq (protein) | NP_001072984 | n/a | |||||||||||
Location (UCSC) |
Chr 10: 50.74 – 50.82 Mb | n/a | |||||||||||
PubMed search | n/a | ||||||||||||
Neutral ceramidase B also known as non-lysosomal ceramidase B or N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B or ASAH2B is a ceramidase enzyme which in humans is encoded by the ASAH2B gene.[1][2]
Clinical significance
ASAH2B shows reduced expression with increasing age and further reduction in late onset Alzheimer's disease patients.[1]
References
- 1 2 Avramopoulos D, Wang R, Valle D, Fallin MD, Bassett SS (April 2007). "A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer's disease". Neurogenetics 8 (2): 111–20. doi:10.1007/s10048-007-0081-5. PMID 17334805.
- ↑ Deloukas P, Earthrowl ME, Grafham DV; et al. (May 2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature 429 (6990): 375–81. doi:10.1038/nature02462. PMID 15164054.
Further reading
- Brandenberger R, Wei H, Zhang S; et al. (2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197.
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