DefinitionThis section has been translated automatically.
The NSMCE3 gene (NSMCE3 stands for "NSE3 Homolog, SMC5-SMC6 Complex Component") is a protein coding gene located on chromosome 15q13.
The protein encoded by the NSMCE3 gene is part of the chromatin reorganization complex SMC5-6 and belongs to the MAGE superfamily. It is an intronless gene.
The NSMCE3 gene (NSMCE3 stands for "NSE3 Homolog, SMC5-SMC6 Complex Component") is a protein coding gene located on chromosome 15q13.
The protein encoded by the NSMCE3 gene is part of the chromatin reorganization complex SMC5-6 and belongs to the MAGE superfamily. It is an intronless gene.
Clinical pictureThis section has been translated automatically.
Diseases associated with NSMCE3 include:
- "Lung disease, immunodeficiency, and chromosome breakage syndrome" (OMIM: 617241) abbreviated as LICS.
LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immunodeficiency, and fatal progressive early childhood lung disease caused by viral infection. Some patients may have mild dysmorphic features (van der Crabben et al. 2016
LiteratureThis section has been translated automatically.
- van der Crabben SN et al (2016) Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. J Clin Invest 126: 2881-2892.
