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Gene : IBA57 Homo sapiens

Name  ? iron-sulfur cluster assembly factor IBA57 Cytological Location  1q42.13
Brief Description  iron-sulfur cluster assembly factor IBA57
Description  The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015]
  • synonyms:
  • SPG74,
  • OTTHUMG00000039769,
  • AK022796,
  • FLJ12734,
  • IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae),
  • MMDS3,
  • IBA57,
  • iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa,
  • C1orf69,
  • IBA57 homolog, iron-sulfur cluster assembly,
  • chromosome 1 open reading frame 69,
  • HGNC:27302,
  • uc001hsl.5,
  • NM_001010867,
  • C1orf69
  • identifiers:
  • 200205,
  • ENSG00000181873,
  • IBA57

Genome feature

Region: gene ? Length: 16454  
Location: 1:228165804-228182257 Cyto location: 1q42.13


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

17 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results