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ASAH2B

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Protein-coding gene in the species Homo sapiens
ASAH2B
Identifiers
AliasesASAH2B, ASAH2L, bA449O16.3, bA98I6.3, N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B, ASAH2C, N-acylsphingosine amidohydrolase 2B
External IDsGeneCards: ASAH2B; OMA:ASAH2B - orthologs
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)
Chromosome 10 (human)Genomic location for ASAH2BGenomic location for ASAH2B
Band10q11.23Start50,739,318 bp
End50,816,495 bp
RNA expression pattern
Bgee
HumanMouse (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
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
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 Mbn/a
PubMed searchn/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.

Clinical significance

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

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000204147Ensembl, 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

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.
Metabolism, lipid metabolism, glycolipid enzymes
Sphingolipid
To glycosphingolipid
To ceramide
From ganglioside
Beta-galactosidase
Hexosaminidase A
Neuraminidase
Glucocerebrosidase
From globoside
Hexosaminidase B
Alpha-galactosidase
Beta-galactosidase
Glucocerebrosidase
From sphingomyelin
Sphingomyelin phosphodiesterase
Sphingomyelin phosphodiesterase 1
From sulfatide
Arylsulfatase A
Galactosylceramidase
To sphingosine
Other
NCL
Ceramide synthesis


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