DERL1 Polyclonal Antibody, 20ul Cell Function Analysis A loss of function mutation

A loss of function mutation in GPT2 has been associated with developmental encephalopathy

RBSN encodes a protein that belongs to the FYVE zinc finger family of proteins

A similar protein in budding yeast is a component of pre-60S ribosomal particles| and is required for the early maturation steps of the 60S subunit

The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA

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DERL1 Polyclonal Antibody, 20ul Cell Function Analysis A loss of function mutationThe protein encoded by this gene is a member of the derlin family. Members of this family participate in the ER associated degradation response and retrotranslocate misfolded or unfolded proteins from the ER lumen to the cytosol for proteasomal degradation. This protein recognizes substrate in the ER and works in a complex to retrotranslocate it across the ER membrane into the cytosol. This protein may select cystic fibrosis transmembrane conductance