C16ORF89

Chr 16

chromosome 16 open reading frame 89

NCBI Gene: 146556 ENSG00000153446 UniProt: Q6UX73

The protein is expressed predominantly in thyroid tissue and likely functions in thyroid development and function based on expression patterns similar to thyroid transcription factors. Mutations cause autosomal recessive primary congenital hypothyroidism with thyroid dysgenesis, presenting in the neonatal period with features of severe hypothyroidism. The gene is highly constrained against loss-of-function variation in the general population.

ResearchSummary from RefSeq

This gene is expressed predominantly in the thyroid. Based on expression patterns similar to thyroid transcription factors and proteins, this gene may function in the development and function of the thyroid. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.70

LOEUF

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Mechanism

Some data sources returned errors (1)