Human Gene SLC25A46 (uc003koz.3) Description and Page Index
Description: Homo sapiens solute carrier family 25, member 46 (SLC25A46), mRNA. RefSeq Summary (NM_138773): This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided by RefSeq, Aug 2016]. Transcript (Including UTRs) Position: hg19 chr5:110,074,754-110,098,484 Size: 23,731 Total Exon Count: 8 Strand: + Coding Region Position: hg19 chr5:110,074,821-110,097,482 Size: 22,662 Coding Exon Count: 8
Asthma Tomomitsu Hirota et al. Nature genetics 2011, Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population., Nature genetics.
Asthma Dara G Torgerson et al. Nature genetics 2011, Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations., Nature genetics.
Cardiac structure and function Vasan ,et al. 2009, Genetic Variants Associated with Cardiac Structure and Function: A Meta-analysis and Replication of Genome-wide Association Data, JAMA 2009 302- 2 : 168-78.
We identified 5 genetic loci harboring common variants that were associated with variation in LV diastolic dimensions and aortic root size, but such findings explained a very small proportion of variance.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96AG3
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.