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  2. CYC1 - cytochrome c1 Gene

CYC1 - cytochrome c1 Gene

中文名称:细胞色素 c1

种属: Homo sapiens

同用名: UQCR4; MC3DN6

基因 ID: 1537 | 基因类型: protein coding

关于 CYC1

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:144,095,076-144,097,525 (from NCBI)

This gene has 4 transcripts (splice variants), 202 orthologues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 77.6), duodenum (RPKM 50.4) and 25 other tissues.

功能概要

该基因编码细胞色素 bc1 复合物的一个亚基,它通过将电子从 Rieske 铁硫蛋白转移到细胞色素 c 在线粒体呼吸链中发挥重要作用。该基因的突变可能导致线粒体复合物 III 缺陷,核 6 型。[RefSeq 提供,2013 年 12 月]

This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear type 6. [provided by RefSeq, Dec 2013]

CYC1 基因产物(1)

mRNA Protein Name
NM_001916.5 NP_001907.3 cytochrome c1, heme protein, mitochondrial precursor

CYC1 蛋白结构

Cytochrom_C1

Cytochrom_C1: Cytochrome C1 family (96 - 312)

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

cytochrome c1, heme protein, mitochondrial

complex III subunit 4

关联疾病

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

Mitochondrial Complex Iii Deficiency Nuclear Type 6

MC3DN6

Mitochondrial Complex Iii Deficiency, Nuclear 6

Isolated Complex Iii Deficiency

Isolated Coq-Cytochrome C Reductase Deficiency

Isolated Coenzyme Q-Cytochrome C Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex Iii Deficiency

Isolated Ubiquinone-Cytochrome C Reductase Deficiency

Mitochondrial Complex Iii Deficiency

Complex 3 Mitochondrial Respiratory Chain Deficiency

Isolated Coq-Cytochrome C Reductase Deficiency

Ubiquinone-Cytochrome C Oxidoreductase Deficiency

Hyperglycemia
Combined Oxidative Phosphorylation Deficiency 3

Fatal Mitochondrial Disease Due To Combined Oxidative Phosphorylation Defect Type 3

COXPD3

Encephalomyopathy, Respiratory Failure, And Lactic Acidosis

Concentric Cardiomyopathy, Hypotonia, And Lactic Acidosis

Fatal Mitochondrial Disease Due To Coxpd3

Concentric Cardiomyopathy Hypotonia And Lactic Acidosis

Encephalomyopathy Respiratory Failure And Lactic Acidosis

Encephalomyopathy With Respiratory Failure And Lactic Acidosis

Combined Oxidative Phosphorylation Deficiency, Type 3

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

Myoclonic Epilepsy Associated With Ragged-Red Fibers

Merrf Syndrome

MERRF

Fukuhara Syndrome

Myoclonic Epilepsy Associated With Ragged Red Fibers

Myoencephalopathy Ragged-Red Fiber Disease

Myoclonic Epilepsy - Ragged Red Fibers

Myoclonus Epilepsy And Ragged Red Fibers

Myoclonus With Epilepsy And With Ragged Red Fibers

Myoclonic Epilepsy With Ragged Red Fibers

Myoclonic Epilepsy With Ragged-Red Fibers

Fukuhara Disease

Myoclonus Epilepsy Associated With Ragged-Red Fibres

Myoclonus With Epilepsy With Ragged Red Fibers

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

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
Canis familiaris CYC1 VGNC VGNC:50287
Felis catus CYC1 VGNC VGNC:61314
Bos taurus CYC1 VGNC VGNC:50266
Macaca mulatta CYC1 VGNC VGNC:71577
Mus musculus CYC1 MGD MGI:1913695
Rattus norvegicus CYC1 RGD RGD:1306597
Macaca fascicularis CYC1 NCBI
Others CYC1 NCBI