TFAM

Chr 10q21.1

transcription factor A, mitochondrial

MANE:: ENST00000487519.6

OMIM: 600438 ↗NCBI: 7019 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TFAM · Q00059

v62025-08-01

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

Mean pLDDT

85.4/ 100

Confident

246 residues

Confidence breakdown

Very high(≥ 90)77%
Confident(70–90)2%
Low(50–70)1%
Very low(< 50)20%

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
Mitochondrial DNA maintenance disorder
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial liver disease, including transient infantile liver failure
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
0.69
neurodegenerative disease
0.55
mitochondrial DNA depletion syndrome, hepatocerebral form
0.53
stroke disorder
0.25
alcohol drinking
0.25
Premature ovarian insufficiency
0.11
Sensorineural hearing impairment
0.11
spondylolisthesis
0.11
musculoskeletal system disorder
0.11
colorectal carcinoma
0.11

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

Protein function (UniProt)

Transcription factor A, mitochondrial

Binds to the mitochondrial light strand promoter and functions in mitochondrial transcription regulation (PubMed:29445193, PubMed:32183942). Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT that is required for basal transcription of mitochondrial DNA (PubMed:29149603). In this complex, TFAM recruits POLRMT to a specific promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand (PubMed:20410300). Required for accurate and efficient promoter recognition by the mitochondrial RNA polymerase (PubMed:22037172). Promotes transcription initiation from the HSP1 and the light strand promoter by binding immediately upstream of transcriptional start sites (PubMed:22037172). Is able to unwind DNA (PubMed:22037172). Bends the mitochondrial light strand promoter DNA into a U-turn shape via its HMG boxes (PubMed:1737790). Required for maintenance of normal levels of mitochondrial DNA (PubMed:19304746, PubMed:22841477). May play a role in organizing and compacting mitochondrial DNA (PubMed:22037171)