Gene: CUTC

Alternate names for this Gene: CGI-32

Gene Summary: Members of the CUT family of copper transporters are associated with copper homeostasis and are involved in the uptake, storage, delivery, and efflux of copper (Gupta et al., 1995 [PubMed 7635807]; Li et al., 2005 [PubMed 16182249]).[supplied by OMIM, Mar 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.263541.1, SRR1803611.256703.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000370476.10/ ENSP00000359507.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

Gene is located in Chromosome: 10

Location in Chromosome : 10q24.2

Description of this Gene: cutC copper transporter

Type of Gene: protein-coding

Gene: COX15

Alternate names for this Gene: CEMCOX2|MC4DN6

Gene Summary: Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region.

Gene is located in Chromosome: 10

Location in Chromosome : 10q24.2

Description of this Gene: cytochrome c oxidase assembly homolog COX15

Type of Gene: protein-coding

rs28939711 in CUTC;COX15 gene and CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 PMID 12474143 2003 Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.

PMID 21412973 2011 Infantile cardioencephalopathy due to a COX15 gene defect: report and review.

rs149718203 in CUTC;COX15 gene and Leigh Disease PMID 21412973 2011 Infantile cardioencephalopathy due to a COX15 gene defect: report and review.

PMID 15863660 2005 Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.

PMID 22310368 2012 Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells.

PMID 26959537 2016 Leigh syndrome associated with a novel mutation in the COX15 gene.

PMID 15235026 2004 Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.