1. Gene
  2. TAFAZZIN - tafazzin, phospholipid-lysophospholipid transacylase Gene

TAFAZZIN - tafazzin, phospholipid-lysophospholipid transacylase Gene

中文名称:tafazzin, 磷脂-溶血磷脂转酰酶

种属: Homo sapiens

同用名: EFE; TAZ; BTHS; EFE2; G4.5; Taz1; CMD3A; LVNCX

基因 ID: 6901 | 基因类型: protein coding

关于 TAFAZZIN

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,411,539-154,421,726 (from NCBI)

This gene has 38 transcripts (splice variants), 181 orthologues and is associated with 4 phenotypes. Ubiquitous expression in bone marrow (RPKM 11.6), spleen (RPKM 10.8) and 25 other tissues.

功能概要

该基因编码一种在心肌和骨骼肌中高水平表达的蛋白质。该基因的突变与许多临床疾病有关,包括 Barth 综合征、扩张型心肌病 (DCM) 、肥厚型 DCM、心内膜弹力纤维增生症和左心室致密化不全 (LVNC) 。已经描述了编码不同亚型的多个转录变体。产生了这些亚型中每一种的长形式和短形式;短形式缺乏疏水前导序列,可能作为细胞质蛋白存在,而不是膜结合。已经描述了其他选择性剪接的转录本,但所有这些转录本的全长性质尚不清楚。[RefSeq 提供,2008 年 7 月]

This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008]

TAFAZZIN 基因产物(6)

mRNA Protein Name
NM_000116.5 NP_000107.1 tafazzin isoform 1
NM_001303465.2 NP_001290394.1 tafazzin isoform 5
NM_001410698.1 NP_001397627.1 tafazzin isoform 6
NM_181311.4 NP_851828.1 tafazzin isoform 2
NM_181312.4 NP_851829.1 tafazzin isoform 3
NM_181313.4 NP_851830.1 tafazzin isoform 4
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 1-acylglycerophosphocholine O-acyltransferase activity IDA
IDA: 通过直接分析推断
12930833 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cardiac muscle contraction IMP
IMP: 通过突变表型推断
17043667 GOA
involved in cardiac muscle tissue development IMP
IMP: 通过突变表型推断
17043667 GOA
involved in cardiolipin biosynthetic process IMP
IMP: 通过突变表型推断
11118295 GOA
involved in cardiolipin metabolic process IDA
IDA: 通过直接分析推断
19700766 GOA
involved in cardiolipin metabolic process IMP
IMP: 通过突变表型推断
33096711 GOA
involved in cristae formation IMP
IMP: 通过突变表型推断
17043667 GOA
involved in heart development IMP
IMP: 通过突变表型推断
17043667 GOA
involved in hemopoiesis IMP
IMP: 通过突变表型推断
17043667 GOA
involved in mitochondrial ATP synthesis coupled electron transport IDA
IDA: 通过直接分析推断
15304507 GOA
involved in mitochondrial respiratory chain complex I assembly IMP
IMP: 通过突变表型推断
16857210 GOA
involved in mitophagy IMP
IMP: 通过突变表型推断
33096711 GOA
involved in muscle contraction IMP
IMP: 通过突变表型推断
17043667 GOA
involved in skeletal muscle tissue development IMP
IMP: 通过突变表型推断
17043667 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
26908608 GOA
located in mitochondrial outer membrane IDA
IDA: 通过直接分析推断
26908608 GOA
is active in mitochondrion IDA
IDA: 通过直接分析推断
38322995 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
15304507 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TAFAZZIN 蛋白结构

Acyltransferase

Acyltransferase: Acyltransferase (41 - 214)

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

tafazzin

protein G4.5

关联疾病

疾病名称 别名
Barth Syndrome

3-Methylglutaconic Aciduria Type 2

BTHS

Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria

Mga Type Ii

Mga2

Mgca2

Mga Type 2

3-Methylglutaconic Aciduria Type Ii

3-Methylglutaconic Aciduria, Type Ii

Mga, Type Ii

3-Methylglutaconicaciduria Type 2

3-Methylglutaconicaciduria Type Ii

Taz Defect

3 Methylglutaconic Aciduria, Type Ii

Dnajc19 Defect

Cardioskeletal Myopathy-Neutropenia Syndrome

X-Linked Cardioskeletal Myopathy And Neutropenia

3-Alpha-Methylglutaconic Aciduria Type 2

Agm2

Cardioskeletal Myopathy-Neutropenia

Invm

Left Ventricular Non-Compaction Isolated X-Linked

Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked

Agammaglobulinemia 2, Autosomal Recessive

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Endocardial Fibroelastosis

Endomyocardial Fibroelastosis

Elastomyofibrosis

EFE

Efe - [Endocardial Fibroelastosis]

Primary Endocardial Fibroelastosis

Fibroelastosis Cordis

Fetal Endocarditis

Fibroelastosis

Congenital Endocardial Fibroelastosis

Congenital Valvular Endocarditis

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Cardiomyopathy, Dilated, 3b

Dilated Cardiomyopathy 3b

CMD3B

X-Linked Dilated Cardiomyopathy

Xlcm

Dmd-Associated Dilated Cardiomyopathy

Cardiomyopathy, Dilated, X-Linked

Dmd-Related Dilated Cardiomyopathy

Xldc

Cardiomyopathy, Dilated, X-Linked 3b

Cardiomyopathy, Dilated, Type 3b

Neutropenia

Leukopenia

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction Cardiomyopathy

Myopathy

Muscular Diseases

Myopathies

3-Methylglutaconic Aciduria, Type V

3-Methylglutaconic Aciduria Type 5

Mga5

MGCA5

Dcma

Dcma Syndrome

Dilated Cardiomyopathy With Ataxia

3-Methylglutaconic Aciduria Type V

Mga Type V

Cardiomyopathy, Dilated, With Ataxia

Mga, Type V

Dilated Cardiomyopathy With Ataxia Syndrome

Dnajc19 Defect

3-Methylglutaconic Aciduria 5

3-Alpha-Methylglutaconic Aciduria Type 5

3-@Methylglutaconic Aciduria, Type V

Atrial Standstill 1

ATRST1

Atrial Cardiomyopathy With Heart Block

Cardiomyopathy, Familial, With Conduction Disturbance

Atrial Standstill, Digenic

Familial Cardiomyopathy With Conduction Disturbance

Standstill, Atrial, Type 1

Heart Block

Cardiomyopathies

Idiopathic Cardiomyopathy

Idiopathic Cardiopathy

Primary Myocardial Disease

Primary Cardiomyopathy

Myocardiopathy

Myocardosis

Primary Idiopathic Myocardial Disease

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

3-Methylglutaconic Aciduria

3-Methyl Glutaconic Aciduria

3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome

Megdel Syndrome

MEGDEL

Mgca6

3-Methylglutaconic Aciduria With Dystonia-Deafness, Hepatopathy, Encephalopathy, And Leigh-Like Syndrome

Megdhel

3-Methylglutaconic Aciduria, Type Vi

Serac1 Defect

3-Methylglutaconic Aciduria Type 6

3-Mgca Type Iv

3-Mgca-4

3-Methylglutaconic Aciduria Type Vi

3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy, And Leigh-Like Syndrome

Megdhel Syndrome

3-Methylglutaconic Aciduria With Deafness-Encephalopathy-Leigh-Like Syndrome

3-Methylglutaconic Aciduria With Hearing Loss-Encephalopathy-Leigh-Like Syndrome

3-Methylglutaconic Aciduria With Deafness, Encephalopathy, Leigh-Like Syndrome

3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome

Cyclic Neutropenia

Cyclic Hematopoiesis

Cyclical Neutropenia

Neutropenia Cyclic

Cyclic Hematopoesis

Neutropenia, Cyclic

Cyclic Agranulocytosis

Neutropenia, Periodic

Cyclic Leucopenia

Periodic Neutropenia

Cyclic Haematopoiesis

CH

Hematopoiesis, Cyclic

Neutropenia, Cyclical

Sengers Syndrome

Mitochondrial Dna Depletion Syndrome 10

Cardiomyopathy And Cataract

Cataract And Cardiomyopathy

MTDPS10

Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome

Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10

Senger Syndrome

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

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

3-Methylglutaconic Aciduria, Type Iv

3-Methylglutaconic Aciduria Type 4

Mga4

MGCA4

3-Methylglutaconic Aciduria Type Iv

Mga, Type Iv

Mga Type Iv

Not Otherwise Specified 3-Mga-Uria Type

3 Alpha Methylglutaconic Aciduria Type Iv

3 Methylglutaconic Aciduria Type Iv

Organic Acidemia

Organic Aciduria

Disorder Of Organic Acid Metabolism

Organic Acid Metabolism Disorder

Organic Acidemias

Inherited Organic Acidemia

Organic Acidurias

Aciduria Organic

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

Lipid Metabolism Disorder

Dyslipidemia

Disorder Of Fatty Acid Metabolism

Lipid Metabolism Disorders

Fatty Acid Metabolism Disorder

Disorder Of Lipid Metabolism

Abnormality Of Lipid Metabolism

Lipid Metabolism, Inborn Errors

Dyslipidemias

Disorders Of Lipid Metabolism

Congenital Disorders Of Lipid Metabolism

Inherited Disorders Of Lipid Metabolism

Mitochondrial Myopathy

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy

Cardiomyopathy, Restrictive

Cardiomyopathy, Constrictive

Primary Restrictive Cardiomyopathy

Rcm

Cardiomyopathy Restrictive

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
Felis catus TAFAZZIN VGNC VGNC:65967
Canis familiaris TAFAZZIN VGNC VGNC:47127
Mus musculus TAFAZZIN MGD MGI:109626
Macaca mulatta TAFAZZIN VGNC VGNC:78102
Bos taurus TAFAZZIN VGNC VGNC:35621
Rattus norvegicus TAFAZZIN RGD RGD:1588532
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