Aliases for ACER1 Gene
External Ids for ACER1 Gene
Previous HGNC Symbols for ACER1 Gene
Previous GeneCards Identifiers for ACER1 Gene
Ceramides are synthesized during epidermal differentiation and accumulate within the interstices of the stratum corneum, where they represent critical components of the epidermal permeability barrier. Excess cellular ceramide can trigger antimitogenic signals and induce apoptosis, and the ceramide metabolites sphingosine and sphingosine-1-phosphate (S1P) are important bioregulatory molecules. Ceramide hydrolysis in the nucleated cell layers regulates keratinocyte proliferation and apoptosis in response to external stress. Ceramide hydrolysis also occurs at the stratum corneum, releasing free sphingoid base that functions as an endogenous antimicrobial agent. ACER1 is highly expressed in epidermis and catalyzes the hydrolysis of very long chain ceramides to generate sphingosine (Houben et al., 2006 [PubMed 16477081]; Sun et al., 2008 [PubMed 17713573]).[supplied by OMIM, Jul 2010]
GeneCards Summary for ACER1 Gene
ACER1 (Alkaline Ceramidase 1) is a Protein Coding gene. Diseases associated with ACER1 include farber lipogranulomatosis and lipogranulomatosis. Among its related pathways are Sphingolipid metabolism and Sphingolipid metabolism. GO annotations related to this gene include ceramidase activity and dihydroceramidase activity. An important paralog of this gene is ACER2.
UniProtKB/Swiss-Prot for ACER1 Gene
Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid at an optimal pH of 8.0. Has a highly restricted substrate specificity for the natural stereoisomer of ceramide with D-erythro-sphingosine but not D-ribo-phytosphingosine or D-erythro-dihydrosphingosine as a backbone. May have a role in regulating the levels of bioactive lipids ceramide and sphingosine 1-phosphate, as well as complex sphingolipids (By similarity).