L-threonine 3-dehydrogenase, mitochondrial (TDH)
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Structure
belongs to the sugar epimerase family
Compartment
Alternative splicing
named isoforms=3
Expression
- expressed in all tissues examined
- detected in most cell types,
- not observed in endothelial cells, glioma cell lines & some leukemia cell lines
Notes
- may be expressed pseudogene encoding non-functional truncated proteins that are unable to make appropriate contacts with substrates, L-threonine & NAD+.
- although all exons expected to encode a functional L-threonine 3-dehydrogenase of 369 residues are present in the human genome, all transcripts described encode truncated proteins that result from mutations within the gene causing the loss of acceptor splice site preceding exon 4 & exon 6[2]
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q8IZJ6.html
- ↑ 2.0 2.1 Edgar AJ. The human L-threonine 3-dehydrogenase gene is an expressed pseudogene. BMC Genet. 2002 Oct 2;3:18. Epub 2002 Oct 2. PMID: https://www.ncbi.nlm.nih.gov/pubmed/12361482