DEPP1

Chr 10

DEPP autophagy regulator 1

Also known as: C10orf10, DEPP, FIG, Fseg

NCBI Gene: 11067 ENSG00000165507 UniProt: Q9NTK1 OMIM: 611309

The protein contains a SNARE coiled-coil homology domain and acts as a critical modulator of FOXO3-induced autophagy via increased cellular ROS, with expression induced by fasting and progesterone. Mutations in DEPP1 cause neurodevelopmental disorder with progressive microcephaly, spasticity, and brain atrophy, which follows an autosomal recessive inheritance pattern. The disorder typically presents in early childhood with progressive neurodegeneration affecting the central nervous system.

OMIM ResearchSummary from RefSeq, UniProt

The expression of this gene is induced by fasting as well as by progesterone. The protein encoded by this gene contains a t-synaptosome-associated protein receptor (SNARE) coiled-coil homology domain and a peroxisomal targeting signal. Production of the encoded protein leads to phosphorylation and activation of the transcription factor ELK1. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.83

LOEUF

Mechanism· predicted