Aliases:
Chromosome No: 7
Chromosome Band: 7q22.1
Genetic Category: Rare single gene variant
ASD Reports: 2
Recent Reports: 1
Annotated variants: 2
Associated CNVs: 3
Evidence score: 2
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Relevance to Autism
A de novo splice-site variant in the SMURF1 gene was identified in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014), while a de novo missense variant that was predicted to be damaging was identified in this gene in an ASD proband from a multiplex family from the iHART cohort (Ruzzo et al., 2019). TADA analysis of de novo and transmitted variants from iHART, the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genome Project in Ruzzo et al., 2019 identified SMURF1 as an ASD candidate gene with a false discovery rate (FDR) < 0.1.
Molecular Function
This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity.
External Links
