PLD6 Chromosome 17
Phospholipase D family member 6
Upload your DNA to see your personal genotypes for variants in PLD6.
What This Gene Does
Enables cardiolipin hydrolase activity and protein homodimerization activity. Involved in mitochondrial fusion. Acts upstream of or within positive regulation of mitochondrial fusion. Located in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Phospholipases
Locus Type
gene with protein product
Location
17p11.2
Ensembl
ENSG00000179598
Associated Conditions (1)
Male infertility
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2544099502 | Health Risk | Likely pathogenic | Male infertility, Male infertility |