PLCD1
Homo sapiens
Gene Name: phospholipase C, delta 1
Aliases: NDNC3, PLC-III
Chromosome No: 3
Chromosome Band: 3p22.2
Genetic Category: Rare Single Gene variant
Aliases: NDNC3, PLC-III
Chromosome No: 3
Chromosome Band: 3p22.2
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 11
Recent Reports: 4
Annotated variants: 6
Associated CNVs: 1
Evidence score: 2
ASD Reports: 11
Recent Reports: 4
Annotated variants: 6
Associated CNVs: 1
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the PLCD1 gene have been identified with autism (O'Roak et al., 2011).
Molecular Function
Mediates production of second messenger molecules DAG and IP3. Essential for trophoblast and placental development
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
ASD
Support
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Highly Cited
The pleckstrin homology domain of phospholipase C-delta 1 binds with high affinity to phosphatidylinositol 4,5-bisphosphate in bilayer membranes.
Highly Cited
Activation of the beta 1 isozyme of phospholipase C by alpha subunits of the Gq class of G proteins.
Highly Cited
Phosphoinositide-specific phospholipase C-delta 1 binds with high affinity to phospholipid vesicles containing phosphatidylinositol 4,5-bisphosphate.
Recent Recommendation
The small GTPase Ral couples the angiotensin II type 1 receptor to the activation of phospholipase C-delta 1.
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
Recent Recommendation
Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.
Recent Recommendation
Genetic defect in phospholipase C1 protects mice from obesity by regulating thermogenesis and adipogenesis.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN197R002
missense_variant
c.1442C>T
p.Ser481Leu
Familial
Extended multiplex (at least one pair of ASD affec
GEN197R004
frameshift_variant
c.1218_1219insC
p.Ile407HisfsTer44
Familial
Paternal
Multiplex
GEN197R005
frameshift_variant
c.1130_1131insA
p.His377GlnfsTer74
Familial
Paternal
Multiplex
GEN197R006
frameshift_variant
c.745_746del
p.Leu249ValfsTer28
Familial
Paternal
Multiplex
Common
No Common Variants Available