PLCZ1 Chromosome 12
Phospholipase C zeta 1
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What This Gene Does
The protein encoded by this gene is a member of the phosphoinositide-specific phospholipase C family. Members in this family, classified into six isotypes that are tissue- and organ-specific, hydrolyze phosphatidylinositol 4,5-bisphosphate just before the phosphate group to yield diacylglycerol and inositol 1,4,5-trisphosphate. This protein localizes to the acrosome in spermatozoa and elicits Ca(2+) oscillations and egg activation during fertilization that leads to early embryonic development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Gene Info
Gene Group
"Phospholipases|C2 domain containing phospholipases|EF-hand domain containing|Gamete adhesion and fusion factors"
Locus Type
gene with protein product
Location
12p12.3
Ensembl
ENSG00000139151
Associated Conditions (2)
Spermatogenic failure 17
PLCZ1-related disorder
Key Variants
RS745955620
Likely pathogenic
Spermatogenic failure 17, Spermatogenic failure 17
Health Risk
RS757326350
Likely pathogenic
Spermatogenic failure 17, PLCZ1-related disorder, Spermatogenic failure 17
Health Risk
RS1181990929
Pathogenic
Spermatogenic failure 17, Spermatogenic failure 17
Health Risk
RS1310560334
Pathogenic
Spermatogenic failure 17, Spermatogenic failure 17
Health Risk
RS1321365869
Pathogenic
Health Risk
RS1401353772
Pathogenic
Spermatogenic failure 17, Spermatogenic failure 17
Health Risk
RS1955655663
Pathogenic
Spermatogenic failure 17, Spermatogenic failure 17
Health Risk
RS1956460756
Pathogenic
Spermatogenic failure 17, Spermatogenic failure 17
Health Risk
RS2498387300
Pathogenic
Health Risk
RS535719220
Pathogenic
Spermatogenic failure 17, Spermatogenic failure 17
Health Risk
RS749562548
Pathogenic
Spermatogenic failure 17, Spermatogenic failure 17
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS745955620 | Health Risk | Likely pathogenic | Spermatogenic failure 17, Spermatogenic failure 17 |
| RS757326350 | Health Risk | Likely pathogenic | Spermatogenic failure 17, PLCZ1-related disorder, Spermatogenic failure 17 |
| RS1181990929 | Health Risk | Pathogenic | Spermatogenic failure 17, Spermatogenic failure 17 |
| RS1310560334 | Health Risk | Pathogenic | Spermatogenic failure 17, Spermatogenic failure 17 |
| RS1321365869 | Health Risk | Pathogenic | — |
| RS1401353772 | Health Risk | Pathogenic | Spermatogenic failure 17, Spermatogenic failure 17 |
| RS1955655663 | Health Risk | Pathogenic | Spermatogenic failure 17, Spermatogenic failure 17 |
| RS1956460756 | Health Risk | Pathogenic | Spermatogenic failure 17, Spermatogenic failure 17 |
| RS2498387300 | Health Risk | Pathogenic | — |
| RS535719220 | Health Risk | Pathogenic | Spermatogenic failure 17, Spermatogenic failure 17 |
| RS749562548 | Health Risk | Pathogenic | Spermatogenic failure 17, Spermatogenic failure 17 |