catalog number :
MBS1270301
products type :
cDNA Clone
products full name :
ISCU cDNA Clone
products short name :
ISCU
other names :
Homo sapiens iron-sulfur cluster scaffold homolog (E. coli), mRNA; Iron-sulfur cluster assembly enzyme ISCU, mitochondrial; iron-sulfur cluster assembly enzyme ISCU, mitochondrial; nifU-like protein; NifU-like N-terminal domain containing; IscU iron-sulfur cluster scaffold homolog; nifU-like N-terminal domain-containing protein; iron-sulfur cluster scaffold homolog (E. coli); NifU-like N-terminal domain-containing protein; NifU-like protein
products gene name :
ISCU
other gene names :
ISCU; ISCU; HML; ISU2; NIFU; NIFUN; hnifU; 2310020H20Rik; NIFUN
uniprot entry name :
ISCU_HUMAN
sequence :
ATGGCGGCGGCTGGGGCTTTCCGTCTGAGGCGGGCGGCA
TCGGCTCTGCTGCTGCGGAGCCCCCGCCTGCCCGCCCGG
GAGCTGTCGGCCCCGGCCCGACTCTATCACAAGAAGGTT
GTTGATCATTATGAAAATCCTAGAAACGTGGGGTCCCTT
GACAAGACATCTAAAAATGTTGGAACTGGACTGGTGGGG
GCTCCAGCATGTGGTGACGTAATGAAATTACAGATTCAA
GTGGATGAAAAGGGGAAGATTGTGGATGCTAGGTTTAAA
ACATTTGGCTGTGGTTCCGCAATTGCCTCCAGCTCATTA
GCCACTGAATGGGTGAAAGGAAAGACGGTGGAGGAAGCC
TTGACTATCAAAAACACAGATATCGCCAAGGAGCTCTGC
CTTCCTCCCGTGAAACTGCACTGCTCCATGCTGGCTGAA
GATGCAATCAAGGCCGCCCTGGCTGATTACAAATTGAAA
CAAGAACCCAAAAAAGGAGAGGCAGAGAAGAAATGA
other info1 :
Vector: Please Inquire. Accession Number: BC061903. cDNA Size: 504. Insert site: rrnB_T1, rrnB_T2. GeneID: 23479
ncbi mol weight :
17,999 Da
ncbi pathways :
Metabolism Pathway (477135); Mitochondrial Iron-Sulfur Cluster Biogenesis Pathway (730343)
ncbi summary :
Iron-sulfur (Fe-S) clusters are necessary for several mitochondrial enzymes and other subcellular compartment proteins. They contain sulfur and iron, and are created via several steps that include cysteine desulfurases, iron donors, chaperones, and scaffold proteins. This gene encodes the two isomeric forms, ISCU1 and ISCU2, of the Fe-S cluster scaffold protein. Mutations in this gene have been found in patients with myopathy with severe exercise intolerance and myoglobinuria. [provided by RefSeq, Jul 2008]
uniprot summary :
ISCU: Involved in the assembly or repair of the [Fe-S] clusters present in iron-sulfur proteins. Binds iron. Defects in ISCU are the cause of myopathy with exercise intolerance Swedish type (MEIS); also known as myopathy with deficiency of succinate dehydrogenase and aconitase or myoglobinuria due to abnormal glycolysis or hereditary myopathy with lactic acidosis (HML). This autosomal recessive metabolic disease is characterized by lifelong severe exercise intolerance, in which minor exertion causes fatigue of active muscles, shortness of breath, and cardiac palpitations in association with lactic acidosis. The biochemical phenotype is characterized by a deficiency in mitochondrial iron-sulfur proteins and impaired muscle oxidative metabolism. Belongs to the NifU family. 2 isoforms of the human protein are produced by alternative splicing. Protein type: Mitochondrial. Chromosomal Location of Human Ortholog: 12q24.1. Cellular Component: mitochondrion; mitochondrial matrix; cytoplasm; cytosol; nucleus. Molecular Function: protein binding; iron ion binding; iron-sulfur cluster binding; protein complex scaffold. Biological Process: iron-sulfur cluster assembly; nitrogen fixation. Disease: Myopathy With Lactic Acidosis, Hereditary
size1 :
0.01 mg Plasmid + 0.2 mL Glycerol-Stock