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UACA uveal autoantigen with coiled-coil domains and ankyrin repeats

Gene ID: 55075, updated on 4-Jul-2021
Gene type: protein coding
Also known as: NUCLING

Summary

This gene encodes a protein that contains ankyrin repeats and coiled coil domains and likely plays a role in apoptosis. Studies in rodents have implicated the encoded protein in the stimulation of apoptosis and the regulation of mammary gland involution, in which the mammary gland returns to its pre-pregnant state. This protein has also been proposed to negatively regulate apoptosis based on experiments in human cell lines in which the protein was shown to interact with PRKC apoptosis WT1 regulator protein, also known as PAR-4, and inhibit translocation of the PAR-4 receptor. Autoantibodies to this protein have been identified in human patients with panuveitis and Graves' disease. Differential expression of this gene has been observed in various human cancers. [provided by RefSeq, May 2017]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Genome-wide association study of lung function phenotypes in a founder population.
GeneReviews: Not available

Genomic context

Location:
15q23
Sequence:
Chromosome: 15; NC_000015.10 (70654554..70778823, complement)
Total number of exons:
22

Links

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