DERL1

Chr 8

derlin 1

Also known as: DER-1, DER1, derlin-1

NCBI Gene: 79139 ENSG00000136986 UniProt: Q9BUN8

The encoded protein forms channels in the endoplasmic reticulum membrane that retrotranslocate misfolded proteins from the ER lumen to the cytosol for proteasomal degradation, functioning as a key component of the ER-associated degradation (ERAD) pathway. Biallelic mutations cause infantile-onset epileptic encephalopathy with severe developmental delay, microcephaly, and visual impairment, following an autosomal recessive inheritance pattern. The gene shows low constraint against loss-of-function variants, consistent with the recessive disease mechanism.

ResearchSummary from RefSeq, UniProt

The 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 regulator protein (CFTR) for degradation as well as unfolded proteins in Alzheimer's disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.84

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)