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NT5C1B-RDH14 readthrough (NT5C1B-RDH14)

Target
NT5C1B-RDH14
Molecular classification
Other (readthrough fusion transcript/protein), Enzyme (represents partial enzymatic activities from NT5C1B and RDH14)
01

Overview

NT5C1B-RDH14 readthrough is a naturally occurring chimeric transcript and protein resulting from read-through transcription between the NT5C1B (5′-nucleotidase, cytosolic IB) gene and RDH14 (retinol dehydrogenase 14) gene on chromosome 2. The readthrough encodes a fusion protein that contains sequence from both parent genes; the main known functional domains are nucleotide binding and potential magnesium ion binding, derived from the NT5C1B component. This fusion has no established role as a therapeutic target, receptor, or druggable protein, and there is no evidence of specific disease involvement or biomarker utility for this readthrough product. The functional significance is poorly defined, and most research attributes biological and disease relevance to the individual parent genes rather than the read-through product itself[2][6][5].

Other names
AIRPNT5C1BcN-IBcN1BNT5C1B-RDH14 proteinCytosolic 5'-nucleotidase 1BCytosolic 5'-nucleotidase IBNT5C1B-RDH14 read-through transcriptNT5C1B-RDH14
02

Biological functions

Nucleotide bindingMagnesium ion bindingMay be involved in nucleotide metabolism (through NT5C1B contribution)[2][6]
03

Disease associations

Other (no direct established disease link for the readthrough; parent NT5C1B is associated with "Laurence-Moon syndrome" and "Pontocerebellar hypoplasia, type 9")[2]

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