COX7B cytochrome c oxidase subunit 7B

Gene ID: 1349, updated on 19-Sep-2024
Gene type: protein coding
Also known as: APLCC; LSDMCA2

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 subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22. [provided by RefSeq, Jun 2011]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Linear skin defects with multiple congenital anomalies 1 MedGen: C0796070OMIM: 309801GeneReviews: Microphthalmia with Linear Skin Defects Syndrome	See labs
Linear skin defects with multiple congenital anomalies 2 MedGen: C3550921OMIM: 300887GeneReviews: Microphthalmia with Linear Skin Defects Syndrome	See labs

Genomic context

Location:: Xq21.1

Sequence:: Chromosome: X; NC_000023.11 (77899468..77907376)

Total number of exons:: 3

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for COX7B variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.