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The KCTD19 (Potassium Channel Tetramerization Domain Containing 19) gene encodes a protein that plays a crucial role in meiotic chromosome organization and male fertility. KCTD19 is located on chromosome 5 in humans. The protein is known to interact with zinc finger protein 541 (ZFP541) and histone deacetylase 1 (HDAC1), highlighting its role in chromatin organization and transcription regulation during meiosis. Mutations or loss-of-function variants in KCTD19 have been implicated in non-obstructive azoospermia (NOA) and male infertility, as evidenced by studies in both human and mouse models. The gene's function in regulating the individualization of meiotic chromosomes is critical, and disruptions can lead to severe meiotic defects and spermatogenic failure.
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Protein Aliases: BTB/POZ domain-containing protein KCTD19; potassium channel tetramerisation domain containing 19; potassium channel tetramerization domain containing 19; Potassium channel tetramerization domain-containing protein 19; testicular tissue protein Li 101
Gene Aliases: 4922504H04Rik; KCTD19; RGD1561326
UniProt ID: (Human) Q17RG1, (Mouse) Q562E2
Entrez Gene ID: (Human) 146212, (Rat) 291965, (Mouse) 279499
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