TIMM50

Chr 19q13.2

translocase of inner mitochondrial membrane 50

Aliases:: TIM50L, TIM50
MANE:: ENST00000607714.6

OMIM: 607381 ↗NCBI: 92609 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

TIMM50 · Q3ZCQ8

v62025-08-01

Predicted Aligned Error matrix for TIMM50 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.9/ 100

Confident

353 residues

Confidence breakdown

Very high(≥ 90)48%
Confident(70–90)30%
Low(50–70)7%
Very low(< 50)16%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

3-methylglutaconic aciduria type 9
0.77
neurodegenerative disease
0.52
Mitochondrial encephalopathy
0.43
hereditary disease
0.42
Epileptic encephalopathy
0.37
mitochondrial disease
0.34
cardiac hypertrophy
0.08
colorectal carcinoma
0.06
neoplasm
0.05
Familial exudative vitreoretinopathy
0.05

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

Protein function (UniProt)

Mitochondrial import inner membrane translocase subunit TIM50

Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane (PubMed:30190335, PubMed:38828998). Has some phosphatase activity in vitro; however such activity may not be relevant in vivo