DNAJC30

Chr 7q11.23

DnaJ heat shock protein family (Hsp40) member C30

MANE:: ENST00000395176.3

OMIM: 618202 ↗NCBI: 84277 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DNAJC30 · Q96LL9

v62025-08-01

Predicted Aligned Error matrix for DNAJC30 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

71.4/ 100

Confident

226 residues

Confidence breakdown

Very high(≥ 90)26%
Confident(70–90)33%
Low(50–70)13%
Very low(< 50)28%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Optic neuropathy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Leber-like hereditary optic neuropathy, autosomal recessive 1
0.68
Leber hereditary optic neuropathy
0.46
Leber hereditary optic neuropathy, autosomal recessive
0.42
optic atrophy
0.41
Retinal dystrophy
0.37
MODY
0.09
maturity-onset diabetes of the young type 3
0.07
transient neonatal diabetes mellitus
0.07
diabetes mellitus, transient neonatal, 3
0.06
maturity-onset diabetes of the young type 10
0.05

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

Protein function (UniProt)

DnaJ homolog subfamily C member 30, mitochondrial

Mitochondrial protein enriched in neurons that acts as a regulator of mitochondrial respiration (By similarity). Associates with the ATP synthase complex and facilitates ATP synthesis (By similarity). May be a chaperone protein involved in the turnover of the subunits of mitochondrial complex I N-module. It facilitates the degradation of N-module subunits damaged by oxidative stress, and contributes to complex I functional efficiency (PubMed:33465056)