MALSU1

protein-coding

mitochondrial assembly of ribosomal large subunit 1

Gene summary

Enables mitochondrial large ribosomal subunit binding activity. Involved in mitochondrial large ribosomal subunit assembly and negative regulation of mitochondrial translation. Located in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C7orf30

MANE transcript

NM_138446.2

Inheritance

—

ClinVar variants

U:56B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.45

Max pathogenic AF

—

Genomic locus

chr7:23,298,739-23,311,729

External References & Databases

Ensembl (ENSG00000156928)

Transcript & Mutation Effects

hg38 • Region Span ~13.0 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 MALSU1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 56

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_138446.2. 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			1 clinvar			1
missense			53 clinvar	3 clinvar		56
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	56	3	0	59

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_138446.2	RefSeq	NP_612455.1	4	MANE Select
ENST00000466681.2	Ensembl	ENSP00000419370.1	4	MANE Select
ENST00000924618.1	Ensembl	ENSP00000594677.1	4	Standard
ENST00000924618.2	Ensembl	ENSP00000594677.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of translation
ribosomal large subunit biogenesis
negative regulation of mitochondrial translation
negative regulation of ribosome biogenesis

Molecular Function

protein binding
ribosomal large subunit binding

Cellular Component

mitochondrion
mitochondrial large ribosomal subunit
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000466681
Coding exons: 4
Length: 12991
Individuals with no LoFs: 125658
Homozygous LoFs: 0
Heterozygous LoFs: 90
Defined: 125748
p: 0.000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.21	177	137	1.29	0.00000670	1499
Missense (PolyPhen)		44	37.876	1.1617		486
Synonymous	-2.69	78	53.1	1.47	0.00000263	475
Loss of Function	-1.29	14	9.68	1.45	4.95e-7	109

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00077	0.00075	rare
Ashkenazi Jewish	0.00090	0.00089	rare
East Asian	0.00027	0.00027	rare
Finnish	0.000048	0.000046	rare
European (Non-Finnish)	0.00032	0.00032	rare
South Asian	0.00030	0.00029	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Required for normal mitochondrial ribosome function and mitochondrial translation (PubMed:22238375, PubMed:23171548). May play a role in ribosome biogenesis by preventing premature association of the 28S and 39S ribosomal subunits (Probable). Interacts with mitochondrial ribosomal protein L14 (MRPL14), probably blocking formation of intersubunit bridge B8, preventing association of the 28S and 39S ribosomal subunits (Probable). Addition to isolated mitochondrial ribosomal subunits partially inhibits translation, probably by interfering with the association of the 28S and 39S ribosomal subunits and the formation of functional ribosomes (Probable). May also participate in the assembly and/or regulation of the stability of the large subunit of the mitochondrial ribosome (PubMed:22238376, PubMed:23171548). May function as a ribosomal silencing factor (Probable). {ECO:0000269|PubMed:22238375, ECO:0000269|PubMed:22238376, ECO:0000269|PubMed:23171548, ECO:0000305|PubMed:22829778, ECO:0000305|PubMed:28892042}.;

Recessive Scores

pRec: 0.0906

Intolerance Scores

RVIS EVS: -0.52
RVIS percentile EVS: 21.2

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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