TBX10 Chromosome 11
T-box transcription factor 10
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What This Gene Does
This gene encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought to be a cause of isolated cleft lip with or without cleft palate. [provided by RefSeq, Nov 2010]
Gene Info
Gene Group
T-box transcription factors
Locus Type
gene with protein product
Location
11q13.2
Ensembl
ENSG00000167800
Associated Conditions (2)
Mendelian syndromes with cleft lip/palate
TBX10-related disorder
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117056541 | Health Risk | Conflicting classifications of pathogenicity | Mendelian syndromes with cleft lip/palate, TBX10-related disorder, Mendelian syndromes with cleft lip/palate |