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Protein Domain : Protein POLR1D, isoform 2-like

Primary Identifier  IPR038948 Type  Family
Short Name  POLR1D-like
description  This entry represents a group of animal proteins, including protein POLR1D, isoform 2 from humans. The function of this isoform is not clear. However, mutations of the POLR1D gene have been linked to Treacher Collins syndrome, a mandibulofacial dysostosis caused by mutations in genes involved in ribosome biogenesis and synthesis [].

0 Child Features

0 Parent Features

4 Protein Domain Regions