1. Gene
  2. COX15 - cytochrome c oxidase assembly homolog COX15 Gene

COX15 - cytochrome c oxidase assembly homolog COX15 Gene

中文名称:细胞色素 c 氧化酶组装同系物 COX15

种属: Homo sapiens

同用名: MC4DN6; CEMCOX2

基因 ID: 1355 | 基因类型: protein coding

关于 COX15

Cytogenetic location: 10q24.2 Genomic coordinates (GRCh38): 10:99,694,293-99,732,127 (from NCBI)

This gene has 3 transcripts (splice variants), 198 orthologues and is associated with 4 phenotypes. Ubiquitous expression in adrenal (RPKM 6.2), kidney (RPKM 6.1) and 25 other tissues.

功能概要

细胞色素 c 氧化酶 (COX) 是线粒体呼吸链的末端组分,它催化电子从还原的细胞色素 c 转移到氧气。该组分是由线粒体基因编码的 3 个催化亚基和核基因编码的多个结构亚基组成的异聚复合物。线粒体编码的亚基在电子传递中起作用,而核编码的亚基可能在复合物的调节和组装中起作用。根据酵母突变体研究,该核基因编码的蛋白质不是结构亚基,但可能对 COX 形成的生物发生至关重要,并可能在血红素 O 的羟基化中发挥作用。预计该蛋白质包含 5 个位于线粒体内膜的跨膜结构域。该基因的可变剪接产生两个在 3' 区域发散的转录变体。[RefSeq 提供,2008 年 7 月]

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 which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008]

COX15 基因产物(10)

mRNA Protein Name
NM_001320974.2 NP_001307903.1 cytochrome c oxidase assembly protein COX15 homolog isoform 2
NM_001320975.2 NP_001307904.1 cytochrome c oxidase assembly protein COX15 homolog isoform 3
NM_001320976.2 NP_001307905.1 cytochrome c oxidase assembly protein COX15 homolog isoform 4
NM_001372024.1 NP_001358953.1 cytochrome c oxidase assembly protein COX15 homolog isoform 5
NM_001372025.1 NP_001358954.1 cytochrome c oxidase assembly protein COX15 homolog isoform 6
NM_001372026.1 NP_001358955.1 cytochrome c oxidase assembly protein COX15 homolog isoform 7
NM_001372027.1 NP_001358956.1 cytochrome c oxidase assembly protein COX15 homolog isoform 8
NM_001372028.1 NP_001358957.1 cytochrome c oxidase assembly protein COX15 homolog isoform 3
NM_004376.7 NP_004367.2 cytochrome c oxidase assembly protein COX15 homolog isoform 2
NM_078470.6 NP_510870.1 cytochrome c oxidase assembly protein COX15 homolog isoform 1

COX15 蛋白结构

COX15-CtaA

COX15-CtaA: Cytochrome oxidase assembly protein (71 - 397)

  • 0
  • 100
  • 200
  • 300
  • 410 a.a.
蛋白主名 其他名称

cytochrome c oxidase assembly protein COX15 homolog

COX15 homolog, cytochrome c oxidase assembly protein

关联疾病

疾病名称 别名
Mitochondrial Complex Iv Deficiency, Nuclear Type 6

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 2

MC4DN6

Cemcox2

Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency 2

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency, Type 2

Leigh Syndrome With Leukodystrophy

Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

Leigh Disease With Leukodystrophy

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

Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency

Fatal Infantile Cox Deficiency

Fatal Infantile Cytochrome C Oxidase Deficiency

Fatal Infantile Encephalocardiomyopathy

Cardiomyopathy, Infantile Hypertrophic

Infantile Hypertrophic Cardiomyopathy

CMHI

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Charcot-Marie-Tooth Disease, Type 4k

Charcot-Marie-Tooth Disease Type 4k

CMT4K

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k

Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k

Surf1-Related Charcot-Marie-Tooth Disease Type 4

Surf1-Related Cmt4

Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4k

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Neuropathy Type 4k

Charcot-Marie-Tooth Disease 4k

Charcot-Marie-Tooth Disease, Demyelinating, Type 4k

Charcot-Marie-Tooth Neuropathy, Type 4k

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

Neuropathy, Ataxia, And Retinitis Pigmentosa

Narp Syndrome

NARP

Neurogenic Muscle Weakness, Ataxia, And Retinitis Pigmentosa

Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome

Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome

Neuropathy, Ataxia And Retinitis Pigmentosa

Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Neuropathy, Ataxia, And Retinitis Pigmentos

Neuropathy Ataxia And Retinitis Pigmentosa

Neuropathy, Ataxia, Retinitis Pigmentosa

Neuropathy Ataxia And Retinis Pigmentosa

Narp - [Neuropathy, Ataxia And Retinitis Pigmentosa] Syndrome

Gracile Syndrome

Finnish Lethal Neonatal Metabolic Syndrome

Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death

Flnms

Fellman Syndrome

Fellman Disease

Finnish Lactic Acidosis With Hepatic Hemosiderosis

Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome

Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome

Lactic Acidosis, Finnish, With Hepatic Hemosiderosis

Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis And Early Death

GRACILE

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

Kearns-Sayre Syndrome

Ophthalmoplegia

Mitochondrial Cytopathy

KSS

Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy

Oculocraniosomatic Syndrome

Chronic Progressive External Ophthalmoplegia With Myopathy

Cpeo With Myopathy

Total Ophthalmoplegia

Ophthalmoplegia-Plus Syndrome

Ophthalmoplegia, Progressive External, With Ragged-Red Fibers

Cpeo With Ragged-Red Fibers

Oculomotor Paralysis

Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O

Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna

Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia

Cpeo With Ragged Red Fibers

Ophthalmoplegia Plus Syndrome

Ophthalmoplegia, Progressive External, With Ragged Red Fibers

Kearns-Sayre Mitochondrial Cytopathy

Mitochondrial Myopathies

Mitochondrial Myopathy

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy

Leber Hereditary Optic Neuropathy

LHON

Leber'S Hereditary Optic Neuropathy

Leber Optic Atrophy, Susceptibility To

Leber'S Optic Atrophy

LOAM

Loas

Leber'S Disease

Leber'S Optic Neuropathy

Optic Atrophy, Hereditary, Leber

Lhon, Modifier Of

Optic Atrophy, Leber Type

Hereditary Optic Neuroretinopathy

Leber Hereditary Optic Atrophy

Loa

Optic Atrophy Leber Type

Leber Hereditary Optic Neuropathy, Modifier

Leber Hereditary Optic Neuropathy Susceptibility

Modifier Of Leber Hereditary Optic Neuropathy

Lebers Hereditary Optic Neuropathy

Leber Congenital Amaurosis

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

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Mus musculus COX15 MGD MGI:1920112
Felis catus COX15 VGNC VGNC:81195
Macaca mulatta COX15 VGNC VGNC:81183
Canis familiaris COX15 VGNC VGNC:39535
Bos taurus COX15 VGNC VGNC:27629
Rattus norvegicus COX15 RGD RGD:1312043