Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 2

Alternative Names

  • UQCC2
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OMIM Number

614461

NCBI Gene ID

84300

Uniprot ID

Q9BRT2

Length

17,459 bases

No. of Exons

4

No. of isoforms

1

Protein Name

Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 2

Molecular Mass

14875 Da

Amino Acid Count

126

Genomic Location

chr6:33,694,293-33,711,751

Gene Map Locus
6p21.31

Description

The UQCC2 gene encodes a protein that localises to the inner membrane of the mitochondria and is required for the assembly of the mitochondrial respiratory chain complex III. The protein thus plays a role in regulating the biological processes of oxidative phosphorylation, insulin secretion and skeletal muscle cell differentiation.  

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_032340.4:c.214-3C>GLebanonchr6:33700516PathogenicPathogenicMitochondrial Complex III Deficiency, Nuclear Type 7NG_034147.1:g.16236C>G; NM_032340.4:c.214-3C>G587777410133295
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