SFXN4

Chr 10q26.11

sideroflexin 4

Aliases:: SLC56A4
MANE:: ENST00000355697.7

OMIM: 615564 ↗NCBI: 119559 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SFXN4 · Q6P4A7

v62025-08-01

Predicted Aligned Error matrix for SFXN4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.4/ 100

Confident

337 residues

Confidence breakdown

Very high(≥ 90)58%
Confident(70–90)30%
Low(50–70)5%
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)

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
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
0.74
neurodegenerative disease
0.53
hereditary disease
0.41
inborn mitochondrial metabolism disorder
0.37
mitochondrial disease
0.37
Nephropathy
0.25
nephritis
0.25
ovarian carcinoma
0.08
hepatocellular carcinoma
0.08
ovarian cancer
0.08

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

Protein function (UniProt)

Sideroflexin-4

Mitochondrial amino-acid transporter (By similarity). Does not act as a serine transporter: not able to mediate transport of serine into mitochondria (PubMed:30442778)