FIGURE

Fig. 3

ID

ZDB-FIG-230228-68

Publication

Van Haute et al., 2023 - TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

Other Figures

All Figure Page

Back to All Figure Page

Fig. 3

TEFM mutations and gene/protein structure.

a Gene structure of TEFM with known protein domains of the gene product and localization of amino acid residues and splice site affected by mutations. The MTS (mitochondrial targeting sequence), the inter-domain linker and the two conserved fold domains (RuvC-type RnaseH-fold domain and a helix–hairpin–helix motif) are indicated. b Conservation of human TEFM amino acid residues affected by mutations across Homo sapiens (Hs), Mus musculus (Mm), Anolis carolinensis (Ac), Xenopus laevis (Xl) and Danio rerio (Dr). c The structure of the human linker (grey) and Rnase H-like domain (blue) of TEFM (PDB: 5OLA) is shown in cartoon indicating the mutation sites. POLRMT is shown in red. d The detailed view of the structural elements at the mutation sites.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Nat. Commun.