SMPD1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SMPD1 wild-type allele is located within 11p15.4-p15.1 and is approximately 5 kb in length. This allele, which encodes sphingomyelin phosphodiesterase protein, is involved in ceramide biosynthesis. Mutation of the gene is associated with Niemann-Pick disease type A and type B.

**Synonyms:** - ASM - ASMASE - NPD - Sphingomyelin Phosphodiesterase 1, Acid Lysosomal wt Allele - Sphingomyelinase, Acid Gene