Members of this entry are inner mitochondrial membrane proteins which play a role in potassium and hydrogen ion exchange [3]. Deletion of LETM1 is thought to be involved in the development of Wolf-Hirschhorn syndrome in humans [1]. This entry represents the ribosome-binding domain (RBD) of LETM1/MDM38 proteins [4]. [1]. 10486213. LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding. protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical. region and is deleted in most WHS patients.. Endele S, Fuhry M, Pak SJ, Zabel BU, Winterpacht A;. Genomics 1999;60:218-225.. [2]. 10071211. Identification of nuclear genes encoding mitochondrial proteins:. isolation of a collection of D. melanogaster cDNAs homologous to. sequences in the Human Gene Index database.. Caggese C, Ragone G, Perrini B, Moschetti R, De Pinto V, Caizzi. R, Barsanti P;. Mol Gen Genet 1999;261:64-70.. [3]. 15904662. Electroneutral K+/H+ exchange in mitochondrial membrane vesicles. involves Yol027/Letm1 proteins.. Froschauer E, Nowikovsky K, Schweyen RJ;. Biochim Biophys Acta 2005;1711:41-48.. [4]. 21718401. Mdm38 is a 14-3-3-like receptor and associates with the protein. synthesis machinery at the inner mitochondrial membrane.. Lupo D, Vollmer C, Deckers M, Mick DU, Tews I, Sinning I,. Rehling P;. Traffic. 2011;12:1457-1466. (from Pfam)
GO Terms:- Date:
- 2024-08-14