alkaline ceramidase 1

ASAH3

N-acylsphingosine amidohydrolase (alkaline ceramidase) 3

Alkaline ceramidase 1

Acylsphingosine deacylase 3

N-acylsphingosine amidohydrolase 3

AlkCDase 1

Alkaline CDase 1

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].

Varaico: Literature-Extracted Genetic Variants

ACER1

RefSeq Summary

Pfam Domains

Gene Aliases

HGNC Name

HGNC Previous Symbol