Aliases: CD157
Chromosome No: 4
Chromosome Band: 4p15.32
Genetic Category: Multigenic CNV-Functional-Genetic association-Rare single gene variant
ASD Reports: 6
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 8
Evidence score: 0
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Relevance to Autism
Two intronic SNPs in the BST1 gene were shown to have significantly higher allele frequencies in Japanese ASD cases compared to unaffected Japanese controls (rs4301112, OR=6.4, p=0.0007; and rs28532698, OR=6.2, p=0.0012) that remained significant after multiple testing correction in Yokoyama et al., 2015. BST1-knockout mice were shown to exhibit anxiety-related and depression-like behaviors, which could be rescued by anti-psychiatric drugs and oxytocin, in Lopatina et al., 2014. Higashida et al., 2017 demonstrated that social avoidance behavior in BST1-knockout mice could be rescued by intraperitoneal injection of oxytocin.
Molecular Function
Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38.
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