TBL1X
Homo sapiens
Gene Name: transducin (beta)-like 1X-linked
Aliases: EBI, SMAP55, TBL1
Chromosome No: X
Chromosome Band: Xp22.31-p22.2
Genetic Category: Genetic Association
Aliases: EBI, SMAP55, TBL1
Chromosome No: X
Chromosome Band: Xp22.31-p22.2
Genetic Category: Genetic Association
Summary Statistics:
ASD Reports: 1
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 14
Evidence score: null
ASD Reports: 1
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 14
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the TBL1X gene and males with ASD in the HIHG/CHGR, AGRE and ACC cohorts (Chung et al., 2011).
Molecular Function
This is an F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. It plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby allowing cofactor exchange.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males.
ASD
Rare
No Rare Variants Available
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN301C001
intron_variant
rs17321050
c.-43+4699T>G;c.-51+4699T>G
G/T
HIHG/CHGR, AGRE, ACC
Discovery
GEN301C002
intron_variant
rs5934665
c.-43+2050G>A;c.-51+2050G>A
ACC
Discovery
GEN301C003
intron_variant
rs2188766
c.-43+6339G>A;c.-51+6339G>A
C/T
ACC
Discovery
