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LETM1
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For Research Use Only. Not For Clinical Use.
Background
This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4.
Protein class
Human disease related genes, Transporters
Predicted location
Membrane
Single cell type specificity
Cell type enhanced (Distal enterocytes)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Homohexamer (By similarity). Can form 2 complexes: a major (300 kDa) and a minor complex (500-600 kDa) (PubMed:18628306). Interacts with BCS1L (PubMed:18628306).
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