STARD7

Chr 2q11.2

StAR related lipid transfer domain containing 7

Aliases:: GTT1
MANE:: ENST00000337288.10

OMIM: 616712 ↗NCBI: 56910 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

STARD7 · Q9NQZ5

v62025-08-01

Predicted Aligned Error matrix for STARD7 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.6/ 100

Confident

370 residues

Confidence breakdown

Very high(≥ 90)37%
Confident(70–90)31%
Low(50–70)12%
Very low(< 50)20%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

benign adult familial myoclonic epilepsy
0.51
neurodegenerative disease
0.26
polycystic ovary syndrome
0.24
neoplasm
0.08
breast cancer
0.08
breast carcinoma
0.08
colitis
0.07
primary ciliary dyskinesia
0.07
Hereditary persistence of alpha-fetoprotein
0.07
isolated asymptomatic elevation of creatine phosphokinase
0.07

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

Protein function (UniProt)

StAR-related lipid transfer protein 7, mitochondrial

Mediates non-vesicular transfer of phosphatidylcholine to mitochondria, thereby maintaining mitochondrial membrane lipid composition, cristae organization, and respiratory function across diverse tissues