CISD1

Chr 10

CDGSH iron sulfur domain 1

Also known as: C10orf70, MDS029, ZCD1, mitoNEET

NCBI Gene: 55847ENSG00000122873UniProt: Q9NZ45

This gene encodes a protein with a CDGSH iron-sulfur domain and has been shown to bind a redox-active [2Fe-2S] cluster. The encoded protein has been localized to the outer membrane of mitochondria and is thought to play a role in regulation of oxidation. Genes encoding similar proteins are located on chromosomes 4 and 17, and a pseudogene of this gene is located on chromosome 2. [provided by RefSeq, Feb 2012]

ResearchGenerating clinical summary…
0
Active trials
35
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.45
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.45LOEUF
pLI 0.022
Z-score 0.90
OE 0.57 (0.26–1.45)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.35Z-score
OE missense 0.87 (0.69–1.10)
49 obs / 56.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.57 (0.26–1.45)
0≤0.351.4
Missense OE?0.87 (0.69–1.10)
0≤0.61.4
Synonymous OE?0.81
0≤1.21.6
LoF obs/exp: 3 / 5.2Missense obs/exp: 49 / 56.3Syn Z: 0.65

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CISD1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients