TLCD2

Chr 17

TLC domain containing 2

NCBI Gene: 727910 ENSG00000185561 UniProt: A6NGC4 OMIM: 620967

The TLCD2 protein regulates plasma membrane composition and fluidity by inhibiting incorporation of omega-3 long-chain polyunsaturated fatty acids, thereby promoting membrane rigidity. Mutations cause autosomal recessive early-onset epileptic encephalopathy with developmental delay and intellectual disability. The gene is highly constrained against loss-of-function variants, suggesting intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, UniProt

Involved in several processes, including membrane assembly; phospholipid homeostasis; and regulation of membrane lipid distribution. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.70

LOEUF

Multiple*

Mechanism· predicted