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Importing Wikidata short description: "Protein-coding gene in the species Homo sapiens" |
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{{Short description|Protein-coding gene in the species Homo sapiens}} |
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'''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]].<ref name="pmid17334805">{{cite journal | vauthors = Avramopoulos D, Wang R, Valle D, Fallin MD, Bassett SS | title = A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer's disease | journal = Neurogenetics | volume = 8 | issue = 2 | pages = 111–20 |date=April 2007 | pmid = 17334805 | doi = 10.1007/s10048-007-0081-5 | s2cid = 20156514 |
'''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]].<ref name="pmid17334805">{{cite journal | vauthors = Avramopoulos D, Wang R, Valle D, Fallin MD, Bassett SS | title = A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer's disease | journal = Neurogenetics | volume = 8 | issue = 2 | pages = 111–20 |date=April 2007 | pmid = 17334805 | doi = 10.1007/s10048-007-0081-5 | s2cid = 20156514 }}</ref><ref name="pmid15164054">{{cite journal | vauthors = Deloukas P, Earthrowl ME, Grafham DV | title = The DNA sequence and comparative analysis of human chromosome 10 | journal = Nature | volume = 429 | issue = 6990 | pages = 375–81 |date=May 2004 | pmid = 15164054 | doi = 10.1038/nature02462 | bibcode = 2004Natur.429..375D |display-authors=etal| doi-access = free }}</ref> |
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==Clinical significance== |
==Clinical significance== |
Latest revision as of 10:28, 17 October 2022
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | ASAH2B, ASAH2L, bA449O16.3, bA98I6.3, N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B, ASAH2C, N-acylsphingosine amidohydrolase 2B | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | GeneCards: ASAH2B; OMA:ASAH2B - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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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.[3][4]
Clinical significance[edit]
ASAH2B shows reduced expression with increasing age and further reduction in late onset Alzheimer's disease patients.[3]
References[edit]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000204147 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b 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. S2CID 20156514.
- ^ 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. Bibcode:2004Natur.429..375D. doi:10.1038/nature02462. PMID 15164054.
External links[edit]
- Human ASAH2B genome location and ASAH2B gene details page in the UCSC Genome Browser.
Further reading[edit]