Aliases: BETA-TRCP, FBW1A, FBXW1, FBXW1A, FWD1, bTrCP, bTrCP1, betaTrCP
Chromosome No: 10
Chromosome Band: 10q24.32
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 4
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 7
Evidence score: 2
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Relevance to Autism
A de novo splice-site variant and a transmitted protein-truncating variant in the BTRC gene were observed in ASD probands from the Autism Sequencing Consortium (De Rubeis et al., 2014), while a de novo damaging missense variant in the same gene was identifed 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 BTRC as an ASD candidate gene with a false discovery rate (FDR) < 0.1.
Molecular Function
Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. SCF(BTRC) mediates the ubiquitination of CTNNB1 and participates in Wnt signaling (PMIDs 12077367 and 12820959).
External Links
