UQCC3

ubiquinol-cytochrome c reductase complex assembly factor 3, the group of Mitochondrial respiratory chain complex assembly factors

Basic information

Region (hg38): 11:62670273-62673686

Previous symbols: [ "C11orf83" ]

Links

ENSG00000204922 ∙ NCBI:790955 ∙ OMIM:616097 ∙ HGNC:34399 ∙ Uniprot:Q6UW78 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• mitochondrial complex III deficiency (Supportive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Mitochondrial complex III deficiency, nuclear type 9	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Biochemical; Neurologic	25008109

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UQCC3 gene.

• not_specified (21 variants)
• not_provided (19 variants)
• UQCC3-related_disorder (1 variants)
• Mitochondrial_complex_III_deficiency_nuclear_type_9 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UQCC3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001085372.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				5		5
missense	1		22	4	1	28
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	1	0	23	9	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UQCC3	protein_coding	protein_coding	ENST00000531323	2	3415

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0323	0.625	124694	0	3	124697	0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0853	53	54.8	0.968	0.00000240	577
Missense in Polyphen		9	6.147	1.4641		50
Synonymous	0.428	22	24.7	0.890	0.00000112	197
Loss of Function	0.267	2	2.45	0.816	1.04e-7	29

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000938	0.0000936
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000884	0.00000884
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex), mediating cytochrome b recruitment and probably stabilization within the complex. Thereby, plays an important role in ATP production by mitochondria. Cardiolipin- binding protein, it may also control the cardiolipin composition of mitochondria membranes and their morphology. {ECO:0000269|PubMed:25008109, ECO:0000269|PubMed:25605331}.
• Disease: DISEASE: Mitochondrial complex III deficiency, nuclear 9 (MC3DN9) [MIM:616111]: A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN9 clinical features include feeding difficulties, hypoglycemia, severe lactic acidosis, and delayed psychomotor development. {ECO:0000269|PubMed:25008109}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Recessive Scores

• pRec: 0.0805

Intolerance Scores

• rvis_EVS: 0.61
• rvis_percentile_EVS: 83.07

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146

Mouse Genome Informatics

• Gene name: Uqcc3

Gene ontology

• Biological process: mitochondrial electron transport, ubiquinol to cytochrome c;ATP biosynthetic process;mitochondrial respiratory chain complex III assembly;cristae formation
• Cellular component: mitochondrial respiratory chain complex III;integral component of mitochondrial inner membrane
• Molecular function: phosphatidic acid binding;cardiolipin binding