UACA

Also known as NUCLING, uveal autoantigen with coiled-coil domains and ankyrin repeats

Uveal autoantigen with coiled-coil domains and ankyrin repeats is a protein that in humans is encoded by the UACA gene. Diseases associated with UACA include Graves' Disease. Among its related pathways are signaling by Rho GTPases and Intrinsic Pathway for Apoptosis. An important paralog of this gene is ANKRD24.

Gene data

UACA

Name: uveal autoantigen with coiled-coil domains and ankyrin repeats
Type: protein-coding
Aliases: NUCLING

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].

via MyGene.info