| Health / Medical Topics |
SMPD1 wt Allele
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. (NCI Thesaurus)
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This gene plays a role in ceramide metabolism.
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