CHCHD10
Chr 22ADcoiled-coil-helix-coiled-coil-helix domain containing 10
Also known as: C22orf16, FTDALS2, IMMD, MIX17A, N27C7-4, SMAJ
This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CHCHD10 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Personalized Antisense Oligonucleotide Therapy for A Single Patient With CHCHD10 ALS (nL18576)
NOT YET RECRUITINGPersonalized Antisense Oligonucleotide for a Single Participant With CHCHD10 ALS
ACTIVE NOT RECRUITINGNeurofilament Light Chain And Voice Acoustic Analyses In Dementia Diagnosis
RECRUITINGPersonalized Antisense Oligonucleotide for Participants With CHCHD10 ALS
ENROLLING BY INVITATIONPersonalized Antisense Oligonucleotide Therapy for A Single Participant With CHCHD10 ALS
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools