COX6A1 - cytochrome c oxidase subunit 6A1 Gene

Homo sapiens

Also known as COX6A; CMTRID; COX6AL

Gene ID: 1337 | Gene type: protein coding

About COX6A1

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:120,438,113-120,440,730 (from NCBI)

This gene has 3 transcripts (splice variants), 239 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 215.0), duodenum (RPKM 185.5) and 25 other tissues.

Summary

Cytochrome c oxidase (COX), the terminal Enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It 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 the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008]

COX6A1 Products(1)

mRNA	Protein	Name
NM_004373.4	NP_004364.2	cytochrome c oxidase subunit 6A1, mitochondrial

COX6A1 Protein Structure

COX6A

0
100
109 a.a.

Protein Preferred Names

Protein Names

cytochrome c oxidase subunit 6A1, mitochondrial

COX VIa-L

Related Diseases

Diseases

Alias

Charcot-Marie-Tooth Disease, Recessive Intermediate D

Charcot-Marie-Tooth Disease Recessive Intermediate D	CMTRID
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type D	Ri-Cmt Type D
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, D

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Charcot-Marie-Tooth Disease, Dominant Intermediate F

CMTDIF	Charcot-Marie-Tooth Disease Dominant Intermediate F
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type F	Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, F
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type F

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Thyroid Hurthle Cell Adenoma

Benign Oncocytoma Of The Thyroid

Thyroid Gland Oncocytic Adenoma

Tooth Disease

Tooth Diseases	Teeth Disease
Tooth Disorders

Charcot-Marie-Tooth Disease, Recessive Intermediate A

Charcot-Marie-Tooth Disease Recessive Intermediate A	CMTRIA
Ri-Cmta	Charcot-Marie-Tooth Disease, Recessive Intermediate, A
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type A	Charcot-Marie-Tooth Neuropathy Recessive Intermediate A
Charcot-Marie-Tooth Neuropathy, Recessive Intermediate A	Ri-Cmt Type A
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, A

Charcot-Marie-Tooth Disease, Recessive Intermediate C

Charcot-Marie-Tooth Disease Recessive Intermediate C	CMTRIC
Ri-Cmtc	Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C
Ri-Cmt Type C	Charcot-Marie-Tooth Neuropathy, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, C	Charcot-Marie-Tooth Neuropathy Recessive Intermediate C

Charcot-Marie-Tooth Disease Type 2a2a

Charcot-Marie-Tooth Disease, Type 2a2a	Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2a2
Charcot-Marie-Tooth Neuronal Type 2a2	Charcot-Marie-Tooth Neuropathy Type 2a2
Cmt2a2a	Hereditary Motor And Sensory Neuropathy Iia2
Hmsn Iia2	Hmsn2a2

Charcot-Marie-Tooth Disease, Axonal, Type 2t

CMT2T	Charcot-Marie-Tooth Disease Axonal Type 2t
Charcot-Marie-Tooth Neuropathy, Type 2t	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2t
Ar-Cmt2t	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2t
Mme-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2	Charcot-Marie-Tooth Neuropathy Type 2t
Charcot-Marie-Tooth Disease Type 2t	Mme-Related Autosomal Dominant Cmt2
Mme-Related Autosomal Dominant Hereditary Motor And Sensory Neuropathy Type 2	Charcot-Marie-Tooth Disease 2t
Charcot-Marie-Tooth Neuropathy Axonal Type 2t

Charcot-Marie-Tooth Disease, Axonal, Type 2h

CMT2H	Charcot-Marie-Tooth Disease Axonal Type 2h
Ar-Cmt2c	Autosomal Recessive Axonal Cmt4c2
Axonal Charcot-Marie-Tooth Disease With Pyramidal Involvement	Charcot-Marie-Tooth Disease Type 2h
Charcot-Marie-Tooth Disease, Axonal, With Pyramidal Features, Autosomal Recessive	Charcot-Marie-Tooth Neuropathy, Axonal, With Pyramidal Features, Autosomal Recessive
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Pyramidal Features	Autosomal Recessive Axonal Charcot-Marie-Tooth Neuropathy With Pyramidal Features
Charcot-Marie-Tooth Disease, Type 2h

Charcot-Marie-Tooth Disease, Axonal, Type 2b2

Charcot-Marie-Tooth Disease Type 2b2	CMT2B2
Arcmt2b	Charcot-Marie-Tooth Disease, Type 2b2
Ar-Cmt2b2	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2
Autosomal Recessive Axonal Cmt4c3	Charcot-Marie-Tooth Disease Neuronal Type 2b2
Charcot-Marie-Tooth Neuropathy Type 2b2	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2
Charcot-Marie-Tooth Disease, Neuronal, Type 2b2	Charcot-Marie-Tooth Neuropathy, Type 2b2
Charcot-Marie-Tooth Disease 2b2	Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2
Charcot-Marie-Tooth Disease Axonal Type 2b2

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4	Charcot-Marie-Tooth Disease Type 4e
Hereditary Motor And Sensory Neuropathy	Cmt4e
CHN1	Hypomyelinating Neuropathy, Congenital, 1
Charcot-Marie-Tooth Neuropathy Type 4e	Neuropathy, Congenital Hypomyelinating, 1
Ar-Cmt1	Autosomal Recessive Demyelinating Charcot-Marie-Tooth
Cmt4	Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
Hypomyelination, Severe Congenital	Charcot-Marie-Tooth Disease, Type 4e
Charcot-Marie-Tooth Neuropathy, Type 4e	Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
Autosomal Recessive Congenital Hypomyelinating Neuropathy	Congenital Amyelinating Neuropathy
Congenital Hypomyelinating Neuropathy Autosomal Recessive	Neuropathy, Congenital Hypomyelinating Or Amyelinating
Severe Congenital Hypomyelination	Hereditary Sensory Motor Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive	Neuropathy, Hypomyelinating, Congenital, Type 1
Neuropathy, Motor And Sensory, Hereditary	Congenital Hypomyelinating Neuropathy
Hereditary Motor And Sensory Neuropathies	Hereditary Sensorimotor Neuropathy
Hmsn - [Hereditary Motor And Sensory Neuropathy]	Hsmn - [Hereditary Sensory And Motor Neuropathy]
Hereditary Motor And Sensory Neuropathy, Types I-Iv

Mitochondrial Complex Iv Deficiency, Nuclear Type 1

Cytochrome C Oxidase Deficiency	Mitochondrial Complex Iv Deficiency
Cox Deficiency	Cytochrome-C Oxidase Deficiency Disease
MC1DN4	Cytochrome-C Oxidase Deficiency
MC4DN1	Mitochondrial Complex I Deficiency, Nuclear Type 4
Complex 4 Mitochondrial Respiratory Chain Deficiency	Complex Iv Deficiency
Mitochondrial Complex 1 Deficiency, Nuclear Type 4	Nuclear Type Mitochondrial Complex I Deficiency 4
Deficiency Of Mitochondrial Respiratory Chain Complex4	MT-C4D
Complex Iv Mitochondrial Respiratory Chain Deficiency	Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency
Mitochondrial Complex Iv Deficiency, Nuclear, Type 1

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03068	COX6A1 Human Pre-designed siRNA Set A		/	Unkown
HY-RS03070	COX6B1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	COX6A1	MGD	MGI:103099
Rattus norvegicus	COX6A1	RGD	RGD:2384

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