FMC1
protein-codingformation of mitochondrial complex V assembly factor 1 homolog
Gene summary
Involved in mitochondrial proton-transporting ATP synthase complex assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]
- C7orf55
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~6.9 kbGenCC 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 FMC1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_197964.5. 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 | 1 | 1 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 1 | 0 | 0 | 0 | 1 |
Highest pathogenic variant AF is 0.0000047898293
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_932068.2 | 2 | MANE Select | |
| Ensembl | ENSP00000297534.6 | 2 | MANE Select | |
| Ensembl | ENSP00000667694.1 | 2 | Standard | |
| Ensembl | ENSP00000765495.1 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- mitochondrial proton-transporting ATP synthase complex assembly
- negative regulation of lipid catabolic process
- regulation of type B pancreatic cell proliferation
Molecular Function
- protein binding
Cellular Component
- mitochondrion
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000297534
- Coding exons
- 2
- Length
- 6863
- Individuals with no LoFs
- 125734
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 13
- Defined
- 125747
- p
- 0.0000517
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.0547 | 69 | 70.3 | 0.982 | 0.00000368 | 704 |
| Missense (PolyPhen) | 23 | 29.012 | 0.79277 | 298 | ||
| Synonymous | -0.314 | 31 | 28.9 | 1.07 | 0.00000136 | 246 |
| Loss of Function | 0.527 | 3 | 4.16 | 0.721 | 1.82e-7 | 49 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.00012 | 0.00012 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000079 | 0.000079 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Plays a role in the assembly/stability of the mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) (PubMed:28719601). {ECO:0000269|PubMed:28719601}.;
Intolerance Scores
- RVIS EVS
- 0.44
- RVIS percentile EVS
- 77.45
Essentials
- Essential (gene trap)
- N