Article
Targeting of Slc25a21 is associated with orofacial defects and otitis media due to disrupted expression of a neighbouring gene.
PloS one - 1 Jan 2014
Maguire Simon, Estabel Jeanne, Ingham Neil, Pearson Selina, Ryder Edward, Carragher Damian M, Walker Nicolas, Bussell James, Chan Wai-In, Keane Thomas M, Adams David J, Scudamore Cheryl L, Lelliott Christopher J, Ramírez-Solis Ramiro, Karp Natasha A, Steel Karen P, White Jacqueline K, Gerdin Anna-Karin
Abstract excerpt
Homozygosity for Slc25a21(tm1a(KOMP)Wtsi) results in mice exhibiting orofacial abnormalities, alterations in carpal and rugae structures, hearing impairment and inflammation in the middle ear. In humans it has been hypothesised that the 2-oxoadipate mitochondrial carrier coded by SLC25A21 may be involved in the disease 2-oxoadipate acidaemia. Unexpectedly, no 2-oxoadipate acidaemia-like symptoms were observed in...
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