FDX1

Chr 11

ferredoxin 1

Also known as: ADX, FDX, LOH11CR1D

NCBI Gene: 2230 ENSG00000137714 UniProt: P10109 OMIM: 103260

This gene encodes a small iron-sulfur protein that transfers electrons from NADPH through ferredoxin reductase to mitochondrial cytochrome P450, involved in steroid, vitamin D, and bile acid metabolism. Pseudogenes of this functional gene are found on chromosomes 20 and 21. [provided by RefSeq, Aug 2011]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

322

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.36

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.36LOEUF

pLI 0.087

Z-score 1.10

OE 0.44 (0.18–1.36)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.45Z-score

OE missense 0.85 (0.68–1.05)

57 obs / 67.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.44 (0.18–1.36)

0≤0.351.4

Missense OE?0.85 (0.68–1.05)

0≤0.61.4

Synonymous OE?1.07

0≤1.21.6

LoF obs/exp: 2 / 4.5Missense obs/exp: 57 / 67.4Syn Z: -0.26

Background carrier burden — how many people carry a rare variant somewhere in FDX1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 160

220 rare PASS variants

Rare truncating (LoF)

1 in 7,400

25 rare PASS variants

Rare synonymous (reference)

1 in 220

99 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FDX1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 250	1 in 6,500
South Asian	~43k	1 in 120	1 in 2,400
Remaining (unassigned)	~30k	1 in 130	none seen
European (Finnish)	~27k	1 in 2,500	≈ 1 in 5,400
Admixed American	~22k	1 in 310	≈ 1 in 10,000
African / African American	~21k	1 in 180	≈ 1 in 16,000
East Asian	~20k	1 in 250	none seen
Ashkenazi Jewish	~13k	1 in 810	≈ 1 in 6,800
Middle Eastern	~2,884	1 in 320	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 2 of 4 coding exons well covered in gnomAD exomes; exons 1, 4 marginal. Genomes: all 4.? see exons ↓