QuickView for TXNL4A (gene)

Gene Symbol:

TXNL4A Homo sapiens

Full name:

thioredoxin like 4A

Synonyms:

BMKS, DIB1, DIM1, SNRNP15, TXNL4, U5-15kD, thioredoxin-like protein 4A, DIM1 protein homolog, spliceosomal U5 snRNP-specific 15 kDa protein, thioredoxin-like 4, thioredoxin-like U5 snRNP protein U5-15kD

Genomic Location:

Chr 18: 75833855-75849520

Description:

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 ...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Gallus gallus ,  Danio rerio ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Cytogenetic Map:

18q23

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