CMC1

protein-coding

C-X9-C motif containing 1, the group of Mitochondrial respiratory chain complex assembly factors

Gene summary

Enables protein folding chaperone. Involved in mitochondrial respiratory chain complex IV assembly. Located in mitochondrion. Is active in mitochondrial intermembrane space. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C3orf68

MANE transcript

NM_182523.2

Inheritance

—

ClinVar variants

U:23

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.4

Max pathogenic AF

—

Genomic locus

chr3:28,241,584-28,325,142

External References & Databases

Ensembl (ENSG00000187118)

Transcript & Mutation Effects

hg38 • Region Span ~83.6 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CMC1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 19

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_182523.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			19 clinvar			19
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	23	0	0	23

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 46 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_182523.2	RefSeq	NP_872329.1	4	MANE Select
ENST00000466830.6	Ensembl	ENSP00000418348.1	4	MANE Select
NM_001331185.2	RefSeq	NP_001318114.1	6	Standard
NM_001331186.2	RefSeq	NP_001318115.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

metal ion binding

Cellular Component

mitochondrion

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000466830
Coding exons: 4
Length: 83559
Individuals with no LoFs: 125559
Homozygous LoFs: 0
Heterozygous LoFs: 16
Defined: 125575
p: 0.0000637

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0347	49	49.7	0.986	0.00000232	704
Missense (PolyPhen)		16	16.153	0.99054		223
Synonymous	0.206	14	15.0	0.932	6.47e-7	172
Loss of Function	1.26	2	5.05	0.396	2.10e-7	82

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00038	0.00037	rare
Latino/Admixed American	0.000091	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000063	0.000062	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. {ECO:0000250}.;

Recessive Scores

pRec: 0.0590

Intolerance Scores

LoFtool: 0.662
RVIS EVS: -0.03
RVIS percentile EVS: 51.04

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0311