ETFRF1

protein-coding

electron transfer flavoprotein regulatory factor 1, the group of LYR motif containing

Gene summary

Enables enzyme inhibitor activity. Involved in negative regulation of oxidative phosphorylation. Located in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

LYRM5

MANE transcript

NM_001001660.3

Inheritance

—

ClinVar variants

U:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 2.12

Max pathogenic AF

—

Genomic locus

chr12:25,195,216-25,209,645

External References & Databases

Ensembl (ENSG00000205707)

Transcript & Mutation Effects

hg38 • Region Span ~14.4 kb

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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 ETFRF1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001001660.3. 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 clinvar			1
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	1	0	0	1

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 53 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001001660.3	RefSeq	NP_001001660.2	2	MANE Select
ENST00000381356.9	Ensembl	ENSP00000370761.4	2	MANE Select
ENST00000553788.6	Ensembl	ENSP00000451938.2	2	Standard
ENST00000553788.7	Ensembl	ENSP00000451938.2	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

respiratory electron transport chain

Molecular Function

protein binding

Cellular Component

mitochondrion

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000381356
Coding exons: 2
Length: 14430
Individuals with no LoFs: 124493
Homozygous LoFs: 0
Heterozygous LoFs: 22
Defined: 124515
p: 0.0000883

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.428	49	41.3	1.19	0.00000214	581
Missense (PolyPhen)		17	14.107	1.2051		192
Synonymous	0.201	13	14.0	0.932	6.82e-7	154
Loss of Function	-1.88	7	3.31	2.12	2.25e-7	52

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00027	0.00026	rare
Latino/Admixed American	0.000063	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.00012	0.00012	rare
South Asian	0.00011	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Acts as a regulator of the electron transfer flavoprotein by promoting the removal of flavin from the ETF holoenzyme (composed of ETFA and ETFB). {ECO:0000269|PubMed:27499296}.;

Recessive Scores

pRec: 0.113

Intolerance Scores

RVIS EVS: -0.08
RVIS percentile EVS: 47.79