TLCD3B

Chr 16

TLC domain containing 3B

Also known as: CORD22, FAM57B, FP1188

NCBI Gene: 83723 ENSG00000149926 UniProt: Q71RH2

The protein is involved in ceramide synthesis and functions as a transmembrane protein that may be targeted by PPAR-gamma. Mutations cause cone-rod dystrophy 22, a retinal degeneration affecting both cone and rod photoreceptors with autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.516), suggesting intolerance to complete protein loss.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a transmembrane protein, which may be a likely target of peroxisome proliferator-activated receptor gamma (PPAR-gamma). The product of the orthologous gene in mouse is related to obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCone-rod dystrophy 22

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

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P/LP missense

0.52

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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