TSPOAP1
Homo sapiens
Gene Name: TSPO associated protein 1
Aliases: BZRAP1, PBR-IP, PRAX-1, PRAX1, RIM-BP1, RIMBP1
Chromosome No: 17
Chromosome Band: 17q22
Genetic Category: Rare Single Gene variant
Aliases: BZRAP1, PBR-IP, PRAX-1, PRAX1, RIM-BP1, RIMBP1
Chromosome No: 17
Chromosome Band: 17q22
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 1
Annotated variants: 15
Associated CNVs: 4
Evidence score: 2
ASD Reports: 7
Recent Reports: 1
Annotated variants: 15
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare variants in the TSPOAP1/BZRAP1 gene have been identified with autism (Bucan et al., 2009).
Molecular Function
Multi-domain adaptor protein
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
ASD
Highly Cited
Cloning and characterization of PRAX-1. A new protein that specifically interacts with the peripheral benzodiazepine receptor.
Highly Cited
The RIM/NIM family of neuronal C2 domain proteins. Interactions with Rab3 and a new class of Src homology 3 domain proteins.
Recent Recommendation
Gene array analysis of adrenal glands in broiler chickens following ACTH treatment.