PLD6
Description
The PLD6 (phospholipase D family member 6) is a protein-coding gene located on chromosome 17.
PLD6, also known as Choline phosphatase 6, Mitochondrial phospholipase, Phosphatidylcholine-hydrolyzing phospholipase D6, Phospholipase D6, Protein zucchini homolog, exhibits both phospholipase and nuclease activities, depending on the physiological conditions. Its interaction with Mitoguardin (MIGA1 or MIGA2) influences its dimer conformation, favoring lipase activity over nuclease activity. PLD6 plays a key role in mitochondrial fusion and fission through its phospholipase activity, utilizing cardiolipin as a substrate to generate phosphatidate (PA), a signaling lipid. PA promotes Mitofusin-mediated fusion, while its cleavage by Lipin phosphatases produces diacylgycerol (DAG), which drives mitochondrial fission. Both Lipin and DAG regulate mitochondrial dynamics and fusion/fission, vital for adapting mitochondrial metabolism to cellular changes. Mitochondrial fusion aids cells in meeting increased nucleotide demands during DNA synthesis. PLD6's endonuclease activity is crucial in PIWI-interacting RNA (piRNA) biogenesis during spermatogenesis. Its single-strand-specific nuclease activity is essential for piRNA maturation, working alongside MOV10L1 to cleave piRNA precursors. This process ensures the generation of piRNA intermediate fragments, ultimately loaded onto Piwi proteins, and contributes to the protection against mobile genetic elements. PA may serve as a signaling molecule in the recognition and transport of primary piRNA precursors. PLD6 interacts with Tesmin in testes, suggesting a role in spermatogenesis. PLD6 forms homodimers and interacts with MOV10L1, MIGA1, MIGA2, and GK2.
PLD6 is also known as ZUC.
Associated Diseases
- male infertility with teratozoospermia due to single gene mutation
- partial chromosome Y deletion
- spermatogenic failures 50
- spermatogenic failure 25
- isochromosomy Yp
- spermatogenic failure 61
- spermatogenic failure 73
- spermatogenic failure 74
- spermatogenic failure 48
- spermatogenic failure, X-linked, 2
- spermatogenic failure 63
- congenital bilateral absence of vas deferens
- spermatogenic failure, X-linked, 3
- spermatogenic failure 72
- spermatogenic failure 65
- spermatogenic failure 20
- spermatogenic failure 40
