PRELID1

Chr 5

PRELI domain containing 1

Also known as: CGI-106, PRELI, PX19, SBBI12

NCBI Gene: 27166 ENSG00000169230 UniProt: Q9Y255

The encoded protein functions as a phosphatidic acid transporter in mitochondria that regulates cardiolipin accumulation and modulates the mitochondrial apoptotic pathway. Mutations cause autosomal recessive neurodegeneration with brain atrophy, characterized by early-onset developmental delay, seizures, and progressive neurological decline. The gene shows moderate constraint against loss-of-function variants, and the condition primarily affects the central nervous system with onset typically in infancy or early childhood.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the late embryogenesis abundant motif-containing protein family. The encoded protein is localized to mitochondria and may function as a cytoprotectant by regulating cell death and differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]

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)

—

P/LP submissions

—

P/LP missense

0.67

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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