Dermal Papilla Derived Protein 13 (DERP13)
SUGCT; C7orf10; ORF19; Russel-Silver Syndrome Candidate; Succinate Hydroxymethylglutarate CoA Transferase; SuccinylCoA:glutarate-CoA transferase
By RT-PCR and 5-prime RACE of an uncharacterized cDNA clone, they obtained full-length C7ORF10. The deduced 434-amino acid protein contains a domain found in fatty acid CoA racemase enzymes and carnitine dehydratase. C7ORF10 shares 71% amino acid identity with its mouse homolog. Northern blot analysis of several human tissues detected a 1.8-kb transcript that was highly expressed in kidney. Intermediate expression was detected in liver, skeletal muscle, and pancreas, and little to no expression was detected in other tissues examined. C7ORF10 is biallelically expressed and not subject to imprinting.The duplication breakpoint interrupted the C7ORF10 gene, and the inversion breakpoint mapped to the 5-prime end of the C7ORF10 gene, possibly just within intron 1.
Organism species: Homo sapiens (Human)
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Organism species: Mus musculus (Mouse)
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Organism species: Rattus norvegicus (Rat)
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