VLDLR
Homo sapiens
Gene Name: Very low density lipoprotein receptor
Aliases: CAMRQ1, CARMQ1, CHRMQ1CH,VLDLR
Chromosome No: 9
Chromosome Band: 9p24.2
Genetic Category: Functional-Syndromic-Rare single gene variant
Aliases: CAMRQ1, CARMQ1, CHRMQ1CH,VLDLR
Chromosome No: 9
Chromosome Band: 9p24.2
Genetic Category: Functional-Syndromic-Rare single gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 13
Evidence score: 2
ASD Reports: 6
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 13
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
VLDLR mRNA levels were found to be significantly elevated in superior frontal and cerebellar areas of post-mortem brains from autistic patients versus control brains (Fatemi et al., 2005). Overexpression of VLDLR in rats resulted in hyperactivity and slight impairments in spatial working memory (Iwata et al., 2012).
Molecular Function
This gene encodes a lipoprotein receptor that is a member of the LDLR family, which consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligand, and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia (OMIM 224050).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Support
Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder
ASD
Support
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
ID
Support
Mice with Dab1 or Vldlr insufficiency exhibit abnormal neonatal vocalization patterns.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN787R001a
missense_variant
c.1919C>T
p.Ser640Phe
Familial
Both parents
GEN787R002a
missense_variant
c.1132T>C
p.Tyr378His
Familial
Paternal
Simplex
GEN787R002b
missense_variant
c.1901G>A
p.Arg634His
Familial
Maternal
Simplex
GEN787R003c
missense_variant
c.242A>G
p.Asn81Ser
Familial
Maternal
Simplex
Common
No Common Variants Available
