ISCU - iron-sulfur cluster assembly enzyme Gene

Homo sapiens

Also known as HML; ISU2; NIFU; NIFUN; hnifU; 2310020H20Rik

Gene ID: 23479 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

NifU_N

0
100
167 a.a.

Protein Preferred Names

Protein Names

iron-sulfur cluster assembly enzyme ISCU, mitochondrial

IscU iron-sulfur cluster scaffold homolog

Recombinant ISCU Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72066	ISCU Protein, Human (Baculovirus, His-Myc)	Q9H1K1 (Y35-K167)	≥95%

Related Diseases

Diseases

Alias

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

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-145413	BRD2889	Inhibitor	/	Unkown
HY-RS06928	ISCU Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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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