RCCX

RCCX is a complex, multiallelic, and tandem copy number variation (CNV) human DNA locus on chromosome 6p21.3, a cluster located in the major histocompatibility complex (MHC) class III region.[1][2] CNVs are segments of DNA that vary in copy number compared to a reference genome and play a significant role in human phenotypic variation and disease development. The RCCX cluster consists of one or more modules each having a series of genes close to each other: serine/threonine kinase 19 (STK19), complement 4 (C4), steroid 21-hydroxylase (CYP21), and tenascin-X (TNX).[3]

  1. ^ Chang SF, Lee HH (2011). "Analysis of the CYP21A2 gene with intergenic recombination and multiple gene deletions in the RCCX module". Genet Test Mol Biomarkers. 15 (1–2): 35–42. doi:10.1089/gtmb.2010.0080. PMID 21117955.
  2. ^ Bánlaki Z, Doleschall M, Rajczy K, Fust G, Szilágyi A (October 2012). "Fine-tuned characterization of RCCX copy number variants and their relationship with extended MHC haplotypes". Genes Immun. 13 (7): 530–535. doi:10.1038/gene.2012.29. PMID 22785613. S2CID 36582994.
  3. ^ Cite error: The named reference pmid34394006 was invoked but never defined (see the help page).