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EEF1E1-BLOC1S5 readthrough (EEF1E1-BLOC1S5)

Target
EEF1E1-BLOC1S5
Molecular classification
lncRNA (long noncoding RNA), RNA gene
01

Overview

EEF1E1-BLOC1S5 readthrough (NMD candidate) is generated by natural read-through transcription between the adjacent EEF1E1 and BLOC1S5 genes on chromosome 6. The resulting transcript is classified as a long noncoding RNA and is considered a candidate for nonsense-mediated mRNA decay, meaning it is unlikely to produce a functional protein product. There is no evidence in current genomic resources for its direct involvement as a therapeutic target, nor for protein expression or drug interactions. The gene has been linked to Hermansky-Pudlak Syndrome types 1 and 11, but its clinical or biological significance is unclear and is likely secondary to overlapping gene regions or misannotation.

Other names
EEF1E1-BLOC1S5EEF1E1-BLOC1S5 readthroughHGNC: 49187NCBI Gene: 100526837Ensembl: ENSG00000265818UniProtKB/TrEMBL: C9J1V9
02

Biological functions

Other: Candidate for nonsense-mediated mRNA decay; no reported protein-coding or functional role
03

Disease associations

Hermansky-Pudlak Syndrome 11Hermansky-Pudlak Syndrome 1

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