QuickView for ASAH1 (gene)

Gene Symbol:

ASAH1 Homo sapiens

Full name:

N-acylsphingosine amidohydrolase 1

Synonyms:

AC, ACDase, ASAH, PHP, PHP32, SMAPME, acid ceramidase, N-acylsphingosine amidohydrolase (acid ceramidase) 1, acid CDase, acylsphingosine deacylase, putative 32 kDa heart protein

Genomic Location:

Chr 8: 17958214-17986787

Description:

This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyz...

View Full Description

This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  C. elegans ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

RTAAACA_FREAC2_01 ,  OCT1_06 ,  YTAAYNGCT_UNKNOWN

Cytogenetic Map:

8p22

search → result