SCFD2
Homo sapiens
Gene Name: sec1 family domain containing 2
Aliases: STXBP1L1
Chromosome No: 4
Chromosome Band: 4q12
Genetic Category: Rare Single Gene variant
Aliases: STXBP1L1
Chromosome No: 4
Chromosome Band: 4q12
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 7
Evidence score: 0
ASD Reports: 4
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 7
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Rare variants in the SCFD2 gene have been identified with autism (Pinto et al., 2010).
Molecular Function
Probable participation in vescicle docking involved in exocytosis
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
