MTG1

protein-coding

mitochondrial ribosome associated GTPase 1

Gene summary

Enables GTPase activity. Involved in mitochondrial large ribosomal subunit assembly; regulation of mitochondrial translation; and regulation of respiratory system process. Located in mitochondrial inner membrane and mitochondrial ribosome. Is active in mitochondrial matrix. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

GTPBP7

MANE transcript

NM_138384.4

Inheritance

—

ClinVar variants

U:79B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.36

Max pathogenic AF

—

Genomic locus

chr10:133,394,094-133,422,520

External References & Databases

Ensembl (ENSG00000148824)

Transcript & Mutation Effects

hg38 • Region Span ~28.4 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 MTG1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 73

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_138384.4. 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			1 clinvar	1 clinvar	1 clinvar	3
missense			77 clinvar	1 clinvar		78
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	79	2	1	82

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 43 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_138384.4	RefSeq	NP_612393.2	11	MANE Select
ENST00000317502.11	Ensembl	ENSP00000323047.6	11	MANE Select
ENST00000432508.3	Ensembl	ENSP00000393480.2	9	Standard
ENST00000432508.4	Ensembl	ENSP00000393480.2	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of respiratory system process
regulation of mitochondrial translation

Molecular Function

GTPase activity
GTP binding

Cellular Component

mitochondrion
mitochondrial inner membrane
mitochondrial matrix
mitochondrial ribosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000317502
Coding exons: 11
Length: 27214
Individuals with no LoFs: 125734
Homozygous LoFs: 0
Heterozygous LoFs: 14
Defined: 125748
p: 0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.524	222	201	1.10	0.0000126	2145
Missense (PolyPhen)		66	67.814	0.97326		706
Synonymous	-0.608	89	82.0	1.09	0.00000524	669
Loss of Function	2.40	6	16.5	0.363	7.84e-7	200

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000064	0.000062	rare
South Asian	0.00010	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays a role in the regulation of the mitochondrial ribosome assembly and of translational activity. Displays mitochondrial GTPase activity. {ECO:0000269|PubMed:23396448}.;

Intolerance Scores

LoFtool: 0.628
RVIS EVS: -0.58
RVIS percentile EVS: 18.72

Essentials

Essential (CRISPR): E
Essential (CRISPR2): S
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.639

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium