Aliases for PLD6 Gene
External Ids for PLD6 Gene
Previous GeneCards Identifiers for PLD6 Gene
GeneCards Summary for PLD6 Gene
PLD6 (Phospholipase D Family Member 6) is a Protein Coding gene. Diseases associated with PLD6 include Heavy Chain Disease and Retinitis Pigmentosa 49. Among its related pathways are Glycerophospholipid biosynthesis and Mitotic Prophase. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and cardiolipin hydrolase activity.
UniProtKB/Swiss-Prot Summary for PLD6 Gene
Endonuclease that plays a critical role in PIWI-interacting RNA (piRNA) biogenesis during spermatogenesis. piRNAs provide essential protection against the activity of mobile genetic elements (By similarity). piRNA-mediated transposon silencing is thus critical for maintaining genome stability, in particular in germline cells when transposons are mobilized as a consequence of wide-spread genomic demethylation (By similarity). Has been proposed to act as a cardiolipin hydrolase to generate phosphatidic acid at mitochondrial surface (By similarity). Although it cannot be excluded that it can act as a phospholipase in some circumstances, it should be noted that cardiolipin hydrolase activity is either undetectable in vitro, or very low (PubMed:21397848). In addition, cardiolipin is almost exclusively found on the inner mitochondrial membrane, while PLD6 localizes to the outer mitochondrial membrane, facing the cytosol (PubMed:21397848). Has been shown to be a backbone-non-specific, single strand-specific nuclease, cleaving either RNA or DNA substrates with similar affinity. Produces 5' phosphate and 3' hydroxyl termini, suggesting it could directly participate in the processing of primary piRNA transcripts (By similarity). Also acts as a regulator of mitochondrial shape through facilitating mitochondrial fusion (PubMed:17028579, PubMed:26711011).