TAMM41

Chr 3p25.2

TAM41 mitochondrial translocator assembly and maintenance homolog

Aliases:: MGC16471, DKFZp434E0519
MANE:: ENST00000455809.6

OMIM: 614948 ↗NCBI: 132001 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TAMM41 · Q96BW9

v62025-08-01

Predicted Aligned Error matrix for TAMM41 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.3/ 100

Confident

452 residues

Confidence breakdown

Very high(≥ 90)50%
Confident(70–90)16%
Low(50–70)8%
Very low(< 50)27%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

combined oxidative phosphorylation deficiency 56
0.63
Bilateral ptosis
0.47
Proximal muscle weakness
0.42
Abnormal facial shape
0.42
Neonatal hypotonia
0.42
gastroesophageal reflux disease
0.42
respiratory failure
0.42
Ankle flexion contracture
0.42
Dysphagia
0.42
Moderate albuminuria
0.35

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

Protein function (UniProt)

Phosphatidate cytidylyltransferase, mitochondrial

Catalyzes the conversion of phosphatidic acid (PA) to CDP-diacylglycerol (CDP-DAG), an essential intermediate in the synthesis of phosphatidylglycerol, cardiolipin and phosphatidylinositol