DefinitionThis section has been translated automatically.
The SP110 gene (SP110 Nuclear Body Protein) is a protein coding gene located on chromosome 2q37.1.
Diseases associated with SP110 include:
Hepatic veno-occlusive disease with immunodeficiency (Veno-occlusive disease of the liver with immunodeficiency-VODI). An important paralog of this gene is SP140.
General informationThis section has been translated automatically.
The encoded protein is part of a multiprotein complex that may play a role in regulating gene transcription. The Sp110 gene belongs to the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein may act as an activator of gene transcription and possibly serve as a coactivator for nuclear hormone receptors. It is suggested that the protein may play a role in ribosome biogenesis and in the induction of differentiation of myeloid cells. Alternative splicing has been observed for this gene. 3 Transcript variants were identified encoding different isoforms.
Furthermore, the Sp110 protein may be a nuclear hormone receptor coactivator. Increases transcription of retinoic acid response element (RARE) genes.
Numerous studies have investigated the association between SP110 gene variants and tuberculosis (TB). Some polymorphisms increase the risk of developing tuberculosis(Chang SY et al. 2018; Zhang S et al. 2017).
LiteratureThis section has been translated automatically.
- Chang SY et al (2018) SP110 Polymorphisms Are Genetic Markers for Vulnerability to Latent and Active Tuberculosis Infection in Taiwan. Dis Markers. 2018 Dec 5: 4687380.
- Zhang S et al (2017) Certain polymorphisms in SP110 genes confer susceptibility to tuberculosis: A Comprehensive Review and Updated Meta-Analysis. Yonsei Med J 58:165-173.
