Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
PNPLA2 Adipose triglyceride lipase (desnutrin)       | 1p15.5 | * Neutral lipid storage disease without ichthyosis - NLSDM (9.27) |
This table has been prepared by Dr Gisèle Bonne * - PhD and by Pr. François Rivier ** - MD, PhD
This website is developed and maintained by Dalil Hamroun** - PhD
* Sorbonne Université-Inserm, Centre of Research in Myology , Paris, France.
** Chu de Montpellier, Montpellier. France.
GT_NMD 2024 (updated 17/01/2024)
Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
PNPLA2 Adipose triglyceride lipase (desnutrin) | 1p15.5 | * Neutral lipid storage disease without ichthyosis - NLSDM (9.27) |