SLCO1C1

Chr 12

solute carrier organic anion transporter family member 1C1

Also known as: OATP-F, OATP-RP5, OATP1, OATP14, OATP1C1, OATPF, OATPRP5, SLC21A14

NCBI Gene: 53919 ENSG00000139155 UniProt: Q9NYB5 OMIM: 613389

The encoded protein is a transmembrane transporter that mediates sodium-independent uptake of thyroid hormones, particularly thyroxine (T4) and triiodothyronine, across the blood-brain barrier and into brain cells. Mutations cause autosomal recessive brain hypothyroidism with neurological defects, characterized by intellectual disability, movement disorders, and developmental delays despite normal systemic thyroid function. This gene is not highly constrained against loss-of-function variants (pLI near zero), consistent with recessive inheritance where heterozygous carriers are typically unaffected.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

GeneReviews OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.97

LOEUF

Multiple*

Mechanism· predicted

📖