SH3 Domain Containing Ring Finger Protein 2 (SH3RF2)

The deduced 186-amino acid protein contains a PP1-binding motif (KTVRFQ). Northern blot analysis detected 1.24- and 0.68-kb HEPP1 transcripts in heart and testis only. Western blot analysis of human heart showed expression of an approximately 25-kD protein, which was identical in size to recombinant HEPP1.

The mutation was fixed in a high-growth line and occurred at a low frequency in a low-growth line. Their analyses suggested that the deletion in the Sh3rf2 gene, which is well conserved in birds and mammals, is the causative mutation for a QTL contributing to the difference in growth between the high- and low-growth lines.