MCUR1

protein-coding

mitochondrial calcium uniporter regulator 1

Gene summary

Predicted to enable protein-macromolecule adaptor activity. Involved in calcium import into the mitochondrion; calcium ion import; and positive regulation of mitochondrial calcium ion concentration. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C6orf79
CCDC90A

MANE transcript

NM_001031713.4

Inheritance

—

ClinVar variants

P:1U:63B:2

Top phenotype

Wolff-Parkinson-White pattern

gnomAD constraint

pLI —, LoF o/e 0.74

Max pathogenic AF

—

Genomic locus

chr6:13,786,557-13,814,568

External References & Databases

Ensembl (ENSG00000050393)

Transcript & Mutation Effects

hg38 • Region Span ~28.0 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 MCUR1 variants in ClinVar

7 Conditions Cataloged

not specifiedTotal: 59

not providedTotal: 4

Wolff-Parkinson-White patternTotal: 1

Muscular atrophyTotal: 1

Pes cavusTotal: 1

Highly elevated creatine kinaseTotal: 1

Skeletal myopathyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001031713.4. 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
missense			61 clinvar	1 clinvar		62
nonsense		1 clinvar				1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	1	63	1	1	66

Highest pathogenic variant AF is 0.000023646458

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 31 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001031713.4	RefSeq	NP_001026883.1	9	MANE Select
ENST00000379170.9	Ensembl	ENSP00000368468.3	9	MANE Select
ENST00000488770.1	Ensembl	ENSP00000476162.1	3	Standard
ENST00000607303.1	Ensembl	ENSP00000476106.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

mitochondrial calcium ion transmembrane transport
calcium import into the mitochondrion
positive regulation of mitochondrial calcium ion concentration
calcium ion import

Molecular Function

protein binding

Cellular Component

mitochondrion
integral component of mitochondrial inner membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000379170
Coding exons: 9
Length: 28012
Individuals with no LoFs: 125699
Homozygous LoFs: 0
Heterozygous LoFs: 48
Defined: 125747
p: 0.000191

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.237	150	142	1.06	0.00000725	2252
Missense (PolyPhen)		56	55.162	1.0152		783
Synonymous	0.304	53	55.9	0.948	0.00000290	730
Loss of Function	0.928	11	14.9	0.740	7.07e-7	221

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000063	0.000062	rare
Latino/Admixed American	0.00027	0.00026	rare
Ashkenazi Jewish	0.00090	0.00089	rare
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00020	0.00020	rare
South Asian	0.00013	0.00013	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Key regulator of mitochondrial calcium uniporter (MCU) required for calcium entry into mitochondrion (PubMed:23178883, PubMed:26445506, PubMed:27184846, PubMed:26976564). Plays a direct role in uniporter-mediated calcium uptake via a direct interaction with MCU (PubMed:23178883). Probably involved in the assembly of the membrane components of the uniporter complex (uniplex) (PubMed:27184846). {ECO:0000269|PubMed:23178883, ECO:0000269|PubMed:26445506, ECO:0000269|PubMed:26976564, ECO:0000269|PubMed:27184846}.;

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N

Gene Damage Prediction

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