PDZD4
Homo sapiens
Gene Name: PDZ domain containing 4
Aliases: LU1; PDZK4; PDZRN4L
Chromosome No: X
Chromosome Band: Xq28
Genetic Category: Rare Single Gene variant-Syndromic
Aliases: LU1; PDZK4; PDZRN4L
Chromosome No: X
Chromosome Band: Xq28
Genetic Category: Rare Single Gene variant-Syndromic
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 11
Evidence score: 0
ASD Reports: 5
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 11
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the PDZD4 gene have been identified with autism (Piton et al., 2011).
Molecular Function
Expressed inthe brain
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
ASD
SCZ
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Highly Cited
Identification and characterization of human PDZRN4L gene and mouse Pdzrn4l gene in silico.
Highly Cited
Identification of PDZK4, a novel human gene with PDZ domains, that is upregulated in synovial sarcomas.