rs2525607262
This variant is located in the RORC gene.
▶ClinVar annotation
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
View on ClinVar →About RORC
The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role in thymopoiesis. In addition, studies in mice suggest that the protein encoded by this gene may inhibit the expression of Fas ligand and IL2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all RORC variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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