Literature associating BTBD18 and hereditary spastic paraplegia 14
BTBD18 [ENSP00000394472]
BTB/POZ domain-containing protein 18; Specifically required during spermatogenesis to promote expression of piRNA precursors. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity. Acts by facilitating transcription elongation at piRNA loci during pachytene.
Synonyms: BTBD18, BTBD18p, hBTBD18, B2RXH4, E9PRF5 ...