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Recessive variants in TXNL4A were identified in two individuals with Burn-McKeown syndrome as well as in three individuals (from two families) with isolated choanal atresia.
results suggest that the interaction between PQBP1 (show PQBP1 Proteins) and WBP11 (show WBP11 Proteins) negatively modulates the U5-15kD binding of PQBP1 (show PQBP1 Proteins) by an allosteric mechanism
Reporter gene and in vivo assays showed that the promoter deletions led to reduced expression of TXNL4A. Depletion of TXNL4A (Dib1) in yeast demonstrated reduced assembly of the tri (show VANGL2 Proteins)-snRNP (show LSM2 Proteins) complex.
frameshift mutations in the PQBP-1 (show PQBP1 Proteins) gene lead to expression of mutants lacking the ability to interact with U5-15kD
human dim1 is a peptidase with autocleavage activity that results in a thioredoxin-like (show TXN Proteins) core
Essential role in pre-mRNA splicing.
, thioredoxin-like 4
, thioredoxin-like protein 4A
, DIM1 protein homolog
, spliceosomal U5 snRNP-specific 15 kDa protein
, thioredoxin-like U5 snRNP protein U5-15kD