Taxon:

Human

Gene:

SMPD1, "Niemann-Pick Disease"

Chromosome:

11

Location:

11p15.4-p15.1

Description:

Preferential expression of the mutation-bearing maternal allele of SMPD1 (sphingomyelin phosphodiesterase 1) was identified in three related individuals (Simonaro CM et al, 2006). Allele bias was also observed for an unrelated individual; however inheritance pattern was not examined.

Category:

Parental effect

Record:

1234

Last Modified 6/27/2010

Links:

Gene   OMIM NPD Type A   OMIM NPD Type B  


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