PLCD1 Chromosome 3
Phospholipase C delta 1
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What This Gene Does
This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
"Phospholipases|C2 domain containing phospholipases|EF-hand domain containing"
Locus Type
gene with protein product
Location
3p22.2
Ensembl
ENSG00000187091
Associated Conditions (2)
Nonsyndromic congenital nail disorder 3
PLCD1-related disorder
Key Variants
RS375683615
Conflicting classifications of pathogenicity
Nonsyndromic congenital nail disorder 3, PLCD1-related disorder, Nonsyndromic congenital nail disorder 3
Health Risk
RS1340615883
Likely pathogenic
Health Risk
RS760879574
Likely pathogenic
PLCD1-related disorder, PLCD1-related disorder
Health Risk
RS1210583991
Pathogenic
Nonsyndromic congenital nail disorder 3, Nonsyndromic congenital nail disorder 3
Health Risk
RS397514470
Pathogenic
Nonsyndromic congenital nail disorder 3, Nonsyndromic congenital nail disorder 3
Health Risk
RS397514471
Pathogenic
Nonsyndromic congenital nail disorder 3, Nonsyndromic congenital nail disorder 3
Health Risk
RS917921060
Pathogenic
Health Risk
RS201094715
Pathogenic/Likely pathogenic
Nonsyndromic congenital nail disorder 3, Nonsyndromic congenital nail disorder 3
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS375683615 | Health Risk | Conflicting classifications of pathogenicity | Nonsyndromic congenital nail disorder 3, PLCD1-related disorder, Nonsyndromic congenital nail disorder 3 |
| RS1340615883 | Health Risk | Likely pathogenic | — |
| RS760879574 | Health Risk | Likely pathogenic | PLCD1-related disorder, PLCD1-related disorder |
| RS1210583991 | Health Risk | Pathogenic | Nonsyndromic congenital nail disorder 3, Nonsyndromic congenital nail disorder 3 |
| RS397514470 | Health Risk | Pathogenic | Nonsyndromic congenital nail disorder 3, Nonsyndromic congenital nail disorder 3 |
| RS397514471 | Health Risk | Pathogenic | Nonsyndromic congenital nail disorder 3, Nonsyndromic congenital nail disorder 3 |
| RS917921060 | Health Risk | Pathogenic | — |
| RS201094715 | Health Risk | Pathogenic/Likely pathogenic | Nonsyndromic congenital nail disorder 3, Nonsyndromic congenital nail disorder 3 |