RFXAP gene

regulatory factor X associated protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008]

From UniProt:

Part of the RFX complex that binds to the X-box of MHC II promoters.

From NCBI Gene:

  • SCID due to absent class II HLA antigens

From UniProt:

Bare lymphocyte syndrome 2 (BLS2): A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections. [MIM:209920]

Cytogenetic Location: 13q14, which is the long (q) arm of chromosome 13 at position 14

Molecular Location: base pairs 36,819,202 to 36,829,603 on chromosome 13 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 13q14, which is the long (q) arm of chromosome 13 at position 14