COX7B - cytochrome c oxidase subunit 7B Gene

Homo sapiens

Also known as APLCC; LSDMCA2

Gene ID: 1349 | Gene type: protein coding

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

COX7B Protein Structure

COX7B

0
80 a.a.

Protein Preferred Names

Protein Names

cytochrome c oxidase subunit 7B, mitochondrial

cytochrome c oxidase polypeptide VIIb

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03076	COX7B Human Pre-designed siRNA Set A		/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.