Iron-Sulfur Cluster Assembly Factor IBA57

Alternative Names

  • IBA57
  • IBA57, S. cerevisiae, Homolog of
  • Chromosome 1 Open Reading Frame 69
  • C1ORF69
Back to search Result
OMIM Number

615316

NCBI Gene ID

200205

Uniprot ID

Q5T440

Length

16,454 bases

No. of Exons

4

No. of isoforms

1

Protein Name

Putative transferase CAF17, mitochondrial

Molecular Mass

38155 Da

Amino Acid Count

356

Genomic Location

chr1:228,165,803-228,182,256

Gene Map Locus
1q42.13

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001010867.3:c.316A>GUnited Arab EmiratesNC_000001.11:g.228166132A>GLikely Pathogenic, Uncertain SignificancePathogenicMultiple Mitochondrial Dysfunctions Syndrome 3NG_042231.1:g.5325A>G; NM_001010867.3:c.316A>G; NP_001010867.1:p.Thr106Ala1053773776545650
© CAGS 2024. All rights reserved.