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The RCCX cluster consists of one or more modules each having a series of genes close to each other: serine/threonine kinase 19 , complement 4 (C4), steroid 21-hydroxylase (CYP21), and tenascin-X (TNX).
23 lip 2024 · While the current implementation in pangene works for gene graphs containing ∼20 000 genes, it will be slow for a minigraph-cactus or PGGB graph that contains tens of millions of nodes. How to efficiently identify generalized bibubbles remains an open and critical problem.
Download scientific diagram | A schematic diagram of the human MHC complement gene cluster. The functional genes of the RCCX modules are highlighted.
29 lip 2021 · In this Review, we focus on the genetic complexity of the RCCX CNV discussing the molecular bases of related human diseases as Congenital Adrenal Hyperplasia (CAH). RCCX CNV is a complex, multiallelic and tandem CNV located in the major histocompatibility complex (MHC) class III region (11, 12).
We also performed the verifications on 5 qPCR assays for the genetic elements of RCCX CNV; C4A, C4B, CNV breakpoint, HERV-K (C4) CNV deletion and insertion alleles. Precision of each qPCR assay was under 1.01 CV%. Accuracy (relative error) ranged from 4.96±4.08% to 9.91±8.93%.
RCCX is a multi-allelic copy number variation locus that is known for being one of the longest in humans, and named after the genes STK19, formerly RP, C4 (complement component 4), CYP21 (steroid 21-hydroxylase) and TNX (tenascin-X).
9 sie 2018 · Variations in the RCCX complex may contribute to disease susceptibility. The genes comprising the RCCX cluster code for enzymes and proteins which substantially influence responses to stressors and cell danger signaling.
