Primary Identifier | MGI:2181962 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 171168 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables N-acylsphingosine amidohydrolase activity. Involved in sebaceous gland development and sphingosine biosynthetic process. Acts upstream of or within ceramide catabolic process and regulation of lipid metabolic process. Located in endoplasmic reticulum. Orthologous to human ACER1 (alkaline ceramidase 1). PHENOTYPE: Mice homozygous for a null allele show increased ceramide levels, hair shaft abnormalities, cyclic alopecia, epidermal hyperplasia, sebaceous gland and infundibulum expansion, increased epidermal water loss, and hypermetabolism along with decreased body weight and adipose tissue depots during aging. [provided by MGI curators] |