ISCA1

Chr 9q21.33

iron-sulfur cluster assembly 1

Aliases:: MGC4276, ISA1, hIscA, hIscA1
MANE:: ENST00000375991.9

OMIM: 611006 ↗NCBI: 81689 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ISCA1 · Q9BUE6

v62025-08-01

Predicted Aligned Error matrix for ISCA1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.9/ 100

Confident

129 residues

Confidence breakdown

Very high(≥ 90)69%
Confident(70–90)25%
Low(50–70)6%
Very low(< 50)0%

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
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency
BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Fatal multiple mitochondrial dysfunction syndrome
0.71
neurodegenerative disease
0.51
Fatal multiple mitochondrial dysfunction syndrome type 2
0.34
fatal multiple mitochondrial dysfunctions syndrome
0.33
atrial fibrillation
0.28
Alzheimer disease
0.16
Parkinson disease
0.16
multiple sclerosis
0.16
lysosomal storage disease
0.16
cancer
0.09

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

Protein function (UniProt)

Iron-sulfur cluster assembly 1 homolog, mitochondrial

Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. Probably involved in the binding of an intermediate of Fe/S cluster assembly