2. Gene
  3. ISCU - iron-sulfur cluster assembly enzyme Gene

ISCU - iron-sulfur cluster assembly enzyme Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：铁硫簇组装酶

种属: Homo sapiens

同用名: HML; ISU2; NIFU; NIFUN; hnifU; 2310020H20Rik

基因 ID: 23479 | 基因类型: protein coding

关于 ISCU

Cytogenetic location: 12q23.3 Genomic coordinates (GRCh38): 12:108,561,463-108,569,384 (from NCBI)

This gene has 13 transcripts (splice variants), 264 orthologues and is associated with 2 phenotypes. Ubiquitous expression in adrenal (RPKM 47.9), heart (RPKM 43.2) and 25 other tissues.

功能概要

该基因编码铁硫 (Fe-S) 簇支架的一个成分。 Fe-S 簇是辅助因子，在多种酶的功能中发挥作用，包括调节新陈代谢、铁稳态和氧化应激反应的酶。可变剪接导致转录变体编码不同的蛋白质亚型，这些亚型定位于胞质溶胶或线粒体。在患有乳酸性酸中毒的遗传性肌病患者中发现了该基因的突变。内含子中与疾病相关的突变可能会激活隐蔽的剪接位点，从而导致产生编码假定无功能蛋白质的剪接变体。该基因的假基因存在于 1 号染色体上。[RefSeq 提供，2016 年 2 月]

This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Feb 2016]

ISCU 基因产物(5)

mRNA Protein Name
NM_001301140.1 NP_001288069.1 iron-sulfur cluster assembly enzyme ISCU, mitochondrial isoform 3 precursor
NM_001301141.1 NP_001288070.1 iron-sulfur cluster assembly enzyme ISCU, mitochondrial isoform 4 precursor
NM_001320042.1 NP_001306971.1 iron-sulfur cluster assembly enzyme ISCU, mitochondrial isoform 3 precursor
NM_014301.4 NP_055116.1 iron-sulfur cluster assembly enzyme ISCU, mitochondrial isoform 1
NM_213595.4 NP_998760.1 iron-sulfur cluster assembly enzyme ISCU, mitochondrial isoform 2 precursor

ISCU 蛋白结构

NifU_N

NifU_N: NifU-like N terminal domain (35 - 157)

  • 0
  • 100
  • 167 a.a.
蛋白主名 其他名称

iron-sulfur cluster assembly enzyme ISCU, mitochondrial

IscU iron-sulfur cluster scaffold homolog

重组 ISCU 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72066 ISCU Protein, Human (Baculovirus, His-Myc) Q9H1K1 (Y35-K167) ≥95%

关联疾病

疾病名称 别名
Myopathy With Lactic Acidosis, Hereditary

Myopathy With Exercise Intolerance, Swedish Type

HML

Myopathy With Deficiency Of Succinate Dehydrogenase And Aconitase

Myoglobinuria Due To Abnormal Glycolysis

Hereditary Myopathy With Lactic Acidosis Due To Iscu Deficiency

Hereditary Myopathy With Lactic Acidosis

Iron-Sulfur Cluster Deficiency Myopathy

Myopathy With Deficiency Of Iron-Sulfur Cluster Assembly Enzyme

Myopathy With Deficiency Of Iscu

Aconitase Deficiency

Iscu Myopathy

Myopathy With Exercise Intolerance Swedish Type

MEIS
Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic
Myopathy

Muscular Diseases

Myopathies
Siderosis

Pulmonary Siderosis

Deposition Of Iron

Arc-Welders' Disease

Arc-Welders' Lung

Arc-Welders' Nodulation

Arc-Welders' Pneumoconiosis

Iron Oxide Lung

Iron Pneumoconiosis

Pneumoconiosis Siderotico

Siderotic Lung Disease

Steel Grinders' Disease

Welders' Lung

Welders' Siderosis

Lung Fibrosis With Siderosis
Combined Oxidative Phosphorylation Deficiency 19

COXPD19

Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency

Combined Oxidative Phosphorylation Deficiency, Type 19
Multiple Mitochondrial Dysfunctions Syndrome 1

MMDS1

Mmds

Nfu1 Deficiency

Multiple Mitochondrial Dysfunctions Syndrome Type 1

Mitochondrial Dysfunctions Syndrome, Multiple, Type 1
Anemia, Sideroblastic, And Spinocerebellar Ataxia

X-Linked Sideroblastic Anemia With Ataxia

ASAT

X-Linked Sideroblastic Anemia And Ataxia

X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia

Anemia, Sideroblastic, With Ataxia

Anemia Sideroblastic And Spinocerebellar Ataxia

Pagon Bird Detter Syndrome

Pagon-Bird-Detter Syndrome

Xlsa-A

X-Linked Sideroblastic Anaemia And Ataxia

X-Linked Sideroblastic Anaemia With Ataxia

Sideroblastic Anemia With Spinocerebellar Ataxia

Xlsa/A

Anemia, Sideroblastic, Spinocerebellar Ataxia

Sideroblastic Anemia And Ataxia

Anemia Sideroblastic, And Spinocerebellar Ataxia
Multiple Mitochondrial Dysfunctions Syndrome

Fatal Multiple Mitochondrial Dysfunctions Syndrome

Fatal Multiple Mitochondrial Dysfunction Syndrome

Mmds

Multiple Mitochondrial Dysfunction Syndrome

Mitochondrial Dysfunctions, Multiple, Syndrome

Multiple Mitochondrial Dysfunctions Syndrome 1
Mend Syndrome

Male Ebp Disorder With Neurological Defects

MEND

Male Ebp Disorder With Neurologic Defects
Autosomal Recessive Cerebellar Ataxia

Arca
Anemia, Sideroblastic, 1

Xlsa

X-Linked Sideroblastic Anemia

Hypochromic Anemia

Anh1

Hereditary Iron-Loading Anemia

Anemia, Sideroblastic, X-Linked

Anemia, Hereditary Sideroblastic

Erythroid 5-Aminolevulinate Synthase Deficiency

Hereditary Sideroblastic Anemia

SIDBA1

Anemia, Hypochromic

Sideroblastic Anemia 1

Anemia Hypochromic

X Chromosome-Linked Sideroblastic Anemia

Sideroblastic Anaemia 1

X-Linked Sideroblastic Anaemia

Anemia Hereditary Sideroblastic

Anemia Sex-Linked Hypochromic Sideroblastic

Congenital Sideroblastic Anemia

Sideroblastic Anemia X-Linked

Anemia, Sex-Linked Hypochromic Sideroblastic

Congenital Sideroblastic Anaemia

X-Linked Pyridoxine-Responsive Sideroblastic Anemia

Anemia Congenital Sideroblastic

Anemia, Sideroblastic, Type 1

Sex-Linked Hypochromic Sideroblastic Anaemia

Autosomal Recessive Sideroblastic Anaemia

Familial Sex Linked Hypochromic Anaemia
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia

Multiple Mitochondrial Dysfunctions Syndrome 2

MMDS2

Bola3 Deficiency

Multiple Mitochondrial Dysfunctions Syndrome Type 2

Mitochondrial Dysfunctions Syndrome, Multiple, Type 2
Sideroblastic Anemia

Anemia Sideroblastic

Anemia, Sideroblastic

Anemia, Hypochromic With Iron Loading
Hereditary Ataxia

Sca

Spinocerebellar Ataxia

Ataxias Hereditary

Ataxias, Hereditary
Cerebellar Disease

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders
Wolfram Syndrome 2

WFS2
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
Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-145413 BRD2889 Inhibitor / 否
HY-RS06928 ISCU Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta ISCU VGNC VGNC:73686
Canis familiaris ISCU VGNC VGNC:42105
Mus musculus ISCU MGD MGI:1913633
Rattus norvegicus ISCU RGD RGD:1309562
Bos taurus ISCU VGNC VGNC:30292
Others ISCU NCBI
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