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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

LPIN2  -  lipin 2

Homo sapiens

Synonyms: KIAA0249, Lipin-2, Phosphatidate phosphatase LPIN2
 
 
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Disease relevance of LPIN2

  • Lipin 2 (LPIN2), a candidate gene for lipodystrophy, maps in proximity to this locus [1].
  • Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome) [2].
 

High impact information on LPIN2

  • Direct sequencing of the LPIN2 gene revealed 11 single nucleotide polymorphisms (SNPs) in myopia and unaffected individuals [1].
  • Although LPIN2 gene was excluded as a candidate for MYP2, the SNPs detected in this study will aid in future mapping and association studies involving this gene [1].
  • Expression studies of this gene by reverse transcription-polymerase chain reaction (RT-PCR) showed that LPIN2 was ubiquitously expressed in various tissues, such as brain, kidney, lung, heart, and skeletal muscles [1].

References

  1. Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia. Zhou, J., Young, T.L. Gene (2005) [Pubmed]
  2. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). Ferguson, P.J., Chen, S., Tayeh, M.K., Ochoa, L., Leal, S.M., Pelet, A., Munnich, A., Lyonnet, S., Majeed, H.A., El-Shanti, H. J. Med. Genet. (2005) [Pubmed]
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