TXNL4A Chromosome 18
Thioredoxin like 4A
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What This Gene Does
The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
Gene Info
Gene Group
U5 small nuclear ribonucleoprotein
Locus Type
gene with protein product
Location
18q23
Ensembl
ENSG00000141759
Associated Conditions (2)
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
TXNL4A-related disorder
Key Variants
RS1555719172
Likely pathogenic
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Health Risk
RS1568360069
Likely pathogenic
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Health Risk
RS2145048234
Pathogenic
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Health Risk
RS2145089648
Pathogenic
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Health Risk
RS727502794
Pathogenic
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Health Risk
RS727502795
Pathogenic
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Health Risk
RS535089924
Pathogenic/Likely pathogenic
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Health Risk
RS727502793
Pathogenic/Likely pathogenic
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, TXNL4A-related disorder, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Health Risk
RS786205699
Pathogenic/Likely pathogenic
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, TXNL4A-related disorder, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555719172 | Health Risk | Likely pathogenic | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome |
| RS1568360069 | Health Risk | Likely pathogenic | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome |
| RS2145048234 | Health Risk | Pathogenic | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome |
| RS2145089648 | Health Risk | Pathogenic | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome |
| RS727502794 | Health Risk | Pathogenic | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome |
| RS727502795 | Health Risk | Pathogenic | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome |
| RS535089924 | Health Risk | Pathogenic/Likely pathogenic | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome |
| RS727502793 | Health Risk | Pathogenic/Likely pathogenic | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, TXNL4A-related disorder, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome |
| RS786205699 | Health Risk | Pathogenic/Likely pathogenic | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, TXNL4A-related disorder, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome |