COX7B - cytochrome c oxidase subunit 7B Gene

Also Known as APLCC; LSDMCA2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1349

About COX7B

Cytogenetic location: Xq21.1 Genomic coordinates (GRCh38): X:77,899,468-77,907,376 (from NCBI)

This gene has 4 transcripts (splice variants), 206 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in heart (RPKM 234.2), kidney (RPKM 174.2) and 24 other tissues.

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]

COX7B Products (1)

mRNA Protein Name
NM_001866.3 NP_001857.1 cytochrome c oxidase subunit 7B, mitochondrial precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
involved in central nervous system development IMP
IMP: Inferred from mutant phenotype
23122588 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrial membrane IDA
IDA: Inferred from direct assay
30030519 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COX7B Protein Structure

COX7B

COX7B: Cytochrome C oxidase chain VIIB (1 - 80)

  • 0
  • 80 a.a.
Protein Preferred Names Protein Names

cytochrome c oxidase subunit 7B, mitochondrial

  • cytochrome c oxidase polypeptide VIIb

COX7B Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
COX7B P24311 GNMT Homo sapiens Q14749
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Linear Skin Defects With Multiple Congenital Anomalies 2

  • LSDMCA2

  • Aplasia Cutis Congenita, Reticulolinear, With Microcephaly, Facial Dysmorphism, And Other Congenital Anomalies

  • Aplcc

  • Aplasia Cutis Congenita, Reticulolinear, With Microcephaly, Facial Dysmorphism And Other Congenital Anomalies
Linear Skin Defects With Multiple Congenital Anomalies 1

  • Midas Syndrome

  • Mcops7

  • Mls Syndrome

  • Microphthalmia, Syndromic 7

  • Microphthalmia With Linear Skin Defects Syndrome

  • Microphthalmia With Linear Skin Defects

  • Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome

  • Syndromic Microphthalmia Type 7

  • LSDMCA1

  • Mls

  • Microphthalmia, Dermal Aplasia, And Sclerocornea

  • Microphthalmia With Linear Skin Defect Syndrome

  • Syndromic Microphthalmia 7

  • Linear Skin Defects With Multiple Congenital Anomalies

  • Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome

  • Microphthalmia Dermal Aplasia And Sclerocornea Syndrome

  • Micropthalmia Syndromic 7

  • Microphthalmia Syndromic 7

  • Microphthalmia With Linear Skin Lesions Syndrome

  • Syndromic Microphthalmia-7

  • Microphthalmia, Dermal Aplasia And Sclerocornea

  • Microphthalmia, Syndromic, 7

  • Midas
Linear Skin Defects With Multiple Congenital Anomalies 3

  • LSDMCA3

  • Linear Skin Defects With Cardiomyopathy And Other Congenital Anomalies

  • Skin Defects, Linear, With Multiple Congenital Anomalies, Type 3
Thyroid Hurthle Cell Adenoma

  • Benign Oncocytoma Of The Thyroid

  • Thyroid Gland Oncocytic Adenoma
Aplasia Cutis Congenita

  • Aplasia Cutis Congenita Of Limbs Recessive

  • Congenital Absence Of Skin On The Upper Or Lower Limbs

  • Recessive Aplasia Cutis Congenita Of The Limbs

  • Aplasia Cutis Congenita Nonsyndromic

  • Congenital Defect Of Skull And Scalp

  • Scalp Defect Congenital
Bjornstad Syndrome

  • BJS

  • Pili Torti And Nerve Deafness

  • Ptd

  • Pili Torti-Deafness Syndrome

  • Deafness-Pili Torti-Hypogonadism Syndrome

  • Deafness And Pili Torti, Bjornstad Type

  • Pili Torti-Sensorineural Hearing Loss

  • Björnstad Syndrome

  • Ptnd

  • Hearing Loss-Pili Torti-Hypogonadism Syndrome

  • Bjoernstad Syndrome
Sclerocornea

  • Isolated Congenital Sclerocornea
Orbital Cyst
Combined Oxidative Phosphorylation Deficiency 6

  • Severe X-Linked Mitochondrial Encephalomyopathy

  • COXPD6

  • Mitochondrial Encephalomyopathy Due To Combined Oxidative Phosphorylation Defect 6

  • Mitochondrial Encephalomyopathy Due To Coxpd6

  • Encephalomyopathy, Mitochondrial, X-Linked

  • Encephalomyopathy Mitochondrial X-Linked

  • Oxidative Phosphorylation Deficiency, Combined, Type 6
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Melas Syndrome

  • MELAS

  • Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

  • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

  • Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

  • Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03076 COX7B Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20894 Cox7b Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27411 Cox7b Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus COX7B MGD MGI:1913392
Macaca mulatta COX7B VGNC VGNC:103801
Rattus norvegicus COX7B RGD RGD:727789
Others COX7B NCBI