NDUFAB1

Chr 16p12.2

NADH:ubiquinone oxidoreductase subunit AB1

Aliases:: SDAP, FASN2A, ACP, ACP1
MANE:: ENST00000007516.8

OMIM: 603836 ↗NCBI: 4706 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

NDUFAB1 · O14561

v62025-08-01

Predicted Aligned Error matrix for NDUFAB1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.8/ 100

Confident

156 residues

Confidence breakdown

Very high(≥ 90)51%
Confident(70–90)8%
Low(50–70)37%
Very low(< 50)5%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Mitochondrial disorder with complex I deficiency
Unknown
Possible mitochondrial disorder - nuclear genes
Unknown
Likely inborn error of metabolism
Unknown
Mitochondrial disorders

Disease associations (Open Targets)

type 2 diabetes mellitus
0.61
diabetes mellitus
0.59
Parkinson disease
0.57
neurodegenerative disease
0.56
Alzheimer disease
0.56
multiple sclerosis
0.52
lysosomal storage disease
0.49
polycystic ovary syndrome
0.42
Insulin resistance
0.41
gestational diabetes
0.41

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

Protein function (UniProt)

Acyl carrier protein, mitochondrial

Carrier of the growing fatty acid chain in fatty acid biosynthesis (By similarity) (PubMed:27626371). Accessory and non-catalytic subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain (PubMed:27626371). Accessory protein, of the core iron-sulfur cluster (ISC) assembly complex, that regulates, in association with LYRM4, the stability and the cysteine desulfurase activity of NFS1 and participates in the [2Fe-2S] clusters assembly on the scaffolding protein ISCU (PubMed:31664822). The core iron-sulfur cluster (ISC) assembly complex is involved in the de novo synthesis of a [2Fe-2S] cluster, the first step of the mitochondrial iron-sulfur protein biogenesis. This process is initiated by the cysteine desulfurase complex (NFS1:LYRM4:NDUFAB1) that produces persulfide which is delivered on the scaffold protein ISCU in a FXN-dependent manner. Then this complex is stabilized by FDX2 which provides reducing equivalents to accomplish the [2Fe-2S] cluster assembly. Finally, the [2Fe-2S] cluster is transferred from ISCU to chaperone proteins, including HSCB, HSPA9 and GLRX5 (By similarity)