ASAH1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ASAH1 wild-type allele is located in the vicinity 8p22 of and is approximately 29 kb in length. This allele, which encodes acid ceramidase protein, is involved in ceramide metabolism. Mutation of the gene is associated with both Farber lipogranulomatosis and spinal muscular atrophy with progressive myoclonic epilepsy.

**Synonyms:** - AC - ACDase - ASAH - FLJ21558 - N-Acylsphingosine Amidohydrolase (Acid Ceramidase) 1 wt Allele - PHP - PHP32 - SMAPME