SSBP1

Chr 7q34

single stranded DNA binding protein 1

Aliases:: SSBP, mtSSB
MANE:: ENST00000265304.11

OMIM: 600439 ↗NCBI: 6742 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

SSBP1 · Q04837

v62025-08-01

Predicted Aligned Error matrix for SSBP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.8/ 100

Confident

148 residues

Confidence breakdown

Very high(≥ 90)63%
Confident(70–90)10%
Low(50–70)20%
Very low(< 50)7%

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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

optic atrophy 13 with retinal and foveal abnormalities
0.77
neurodegenerative disease
0.49
Cone rod dystrophy
0.34
cone-rod dystrophy
0.34
retinal disorder
0.34
hereditary disease
0.18
optic atrophy
0.12
Retinal dystrophy
0.12
cancer
0.09
hepatocellular carcinoma
0.08

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

Protein function (UniProt)

Single-stranded DNA-binding protein, mitochondrial

Binds preferentially and cooperatively to pyrimidine rich single-stranded DNA (ss-DNA) (PubMed:21953457, PubMed:23290262, PubMed:31550240). In vitro, required to maintain the copy number of mitochondrial DNA (mtDNA) and plays a crucial role during mtDNA replication by stimulating the activity of the replisome components POLG and TWNK at the replication fork (PubMed:12975372, PubMed:15167897, PubMed:21953457, PubMed:26446790, PubMed:31550240). Promotes the activity of the gamma complex polymerase POLG, largely by organizing the template DNA and eliminating secondary structures to favor ss-DNA conformations that facilitate POLG activity (PubMed:21953457, PubMed:26446790, PubMed:31550240). In addition it is able to promote the 5'-3' unwinding activity of the mtDNA helicase TWNK (PubMed:12975372). May also function in mtDNA repair (PubMed:23290262)