COX7A2-Like Protein

Alternative Names

  • COX7A2L
  • Cytochrome C Oxidase Subunit 7A2-Like
  • Cytochrome C Oxidase Subunit Viia Polypeptide 2-Like
  • COX7RP
  • COX7AR
  • EB1
  • Supercomplex Assembly Factor 1
  • SCAF1
  • Silica-Induced Gene 81
  • SIG81
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OMIM Number

605771

NCBI Gene ID

9167

Uniprot ID

O14548

Length

33,399 bases

No. of Exons

7

Protein Name

Cytochrome c oxidase subunit 7A-related protein, mitochondrial

Molecular Mass

12615 Da

Amino Acid Count

114

Genomic Location

chr2:42,335,559-42,368,957

Gene Map Locus
2p21

Description

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 similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004718.4:c.130A>TSaudi ArabiaNC_000002.12:g.42353286T>ALikely PathogenicNM_004718.4:c.130A>T; NP_004709.2:p.Lys44Ter375692790
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