DHX30

Chr 3p21.31

DExH-box helicase 30

Aliases:: KIAA0890, FLJ11214
MANE:: ENST00000445061.6

OMIM: 616423 ↗NCBI: 22907 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

DHX30 · Q7L2E3

v62025-08-01

Predicted Aligned Error matrix for DHX30 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.1/ 100

Confident

1,194 residues

Confidence breakdown

Very high(≥ 90)49%
Confident(70–90)34%
Low(50–70)6%
Very low(< 50)12%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ectodermal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodevelopmental disorder with severe motor impairment and absent language
0.80
neurodegenerative disease
0.52
hereditary disease
0.49
neurodevelopmental disorder
0.47
microcephaly
0.46
Global developmental delay
0.43
Strabismus
0.42
Short stature
0.42
Intellectual disability
0.40
Hearing impairment
0.34

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

Protein function (UniProt)

ATP-dependent RNA helicase DHX30

RNA-dependent helicase (PubMed:29100085). Plays an important role in the assembly of the mitochondrial large ribosomal subunit (PubMed:25683715, PubMed:29100085). Required for optimal function of the zinc-finger antiviral protein ZC3HAV1 (By similarity). Associates with mitochondrial DNA (PubMed:18063578). Involved in nervous system development and differentiation through its involvement in the up-regulation of a number of genes which are required for neurogenesis, including GSC, NCAM1, neurogenin, and NEUROD (By similarity)