DHX34

Chr 19q13.32

DExH-box helicase 34

Aliases:: KIAA0134
MANE:: ENST00000328771.9

OMIM: 615475 ↗NCBI: 9704 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

DHX34 · Q14147

v62025-08-01

Predicted Aligned Error matrix for DHX34 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

80.5/ 100

Confident

1,143 residues

Confidence breakdown

Very high(≥ 90)42%
Confident(70–90)37%
Low(50–70)9%
Very low(< 50)11%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Haematological malignancies cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder
0.45
neurodegenerative disease
0.37
Intellectual disability
0.35
Neurodevelopmental delay
0.35
Seizure
0.30
preeclampsia
0.28
Short stature
0.26
microcephaly
0.26
pulmonary emphysema
0.26
Unilateral renal agenesis
0.26

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Probable ATP-dependent RNA helicase DHX34

Probable ATP-binding RNA helicase required for nonsense-mediated decay (NMD) degradation of mRNA transcripts containing premature stop codons (PubMed:25220460, PubMed:33205750). Promotes the phosphorylation of UPF1 along with its interaction with key NMD pathway proteins UPF2 and EIF4A3 (PubMed:25220460). Interaction with the RUVBL1-RUVBL2 complex results in loss of nucleotide binding ability and ATP hydrolysis of the complex (PubMed:33205750). Negatively regulates the nucleotide binding ability and ATP hydrolysis of the RUVBL1-RUVBL2 complex via induction of N-terminus conformation changes of the RUVBL2 subunits (PubMed:33205750)