ASAH2B

ASAH2B
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
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q11.23 Start 50,739,318 bp[1] End 50,816,495 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in duodenum gonad islet of Langerhans ganglionic eminence testicle superior frontal gyrus liver primary visual cortex rectum ventricular zone n/a More reference expression data BioGPS n/a
Gene ontology Molecular function N-acylsphingosine amidohydrolase activity Cellular component extracellular region Biological process long-chain fatty acid biosynthetic process sphingosine biosynthetic process ceramide catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 653308 n/a Ensembl ENSG00000204147 n/a UniProt P0C7U1 n/a RefSeq (mRNA) NM_001079516 NM_001321957 NM_001321958 NM_001321959 NM_001321960 n/a RefSeq (protein) NP_001072984 NP_001308886 NP_001308887 NP_001308888 NP_001308889 n/a Location (UCSC) Chr 10: 50.74 – 50.82 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

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

ASAH2B shows reduced expression with increasing age and further reduction in late onset Alzheimer's disease patients.[3]

References

1. GRCh38: Ensembl release 89: ENSG00000204147 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. 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.
4. 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

• Human ASAH2B genome location and ASAH2B gene details page in the UCSC Genome Browser.

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. S2CID 27764390.