CERT1

Chr 5

ceramide transporter 1

Also known as: CERT, CERTL, COL4A3BP, GPBP, MRD34, NEDHSF, STARD11

NCBI Gene: 10087 ENSG00000113163 UniProt: Q9Y5P4

The protein mediates intracellular trafficking of ceramides from the endoplasmic reticulum to the Golgi apparatus for sphingomyelin synthesis, sheltering ceramides within its START domain. Mutations cause autosomal dominant neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies. The gene shows high constraint against loss-of-function variants (LOEUF 0.364), indicating intolerance to protein-disrupting mutations.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies

Clinical highlights

Interpreting a novel variant

Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.36

LOEUF

GOF

Mechanism· G2P

Some data sources returned errors (1)

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