GTF2IRD1 Chromosome 7
GTF2I repeat domain containing 1
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What This Gene Does
The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
Associated Conditions (1)
Childhood-onset schizophrenia
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS782585415 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS863223350 | Health Risk | Likely pathogenic | Childhood-onset schizophrenia, Childhood-onset schizophrenia |