Gene
IBA57
iron-sulfur cluster assembly factor IBA57
- HGNC 27302(opens in a new tab)
- Ensembl gene ENSG00000181873(opens in a new tab)
- NCBI Gene 200205(opens in a new tab)
Summary
- Cytogenetic location
- 1q42.13
- Coordinates
- Chromosome 1: 228,165,804–228,182,257 (GRCh38)
- Exons
- 3 exons across 16.5 kb
- Protein
- 356 amino acids
- Also known as
- FLJ12734
- Previous symbols
- C1orf69
- MANE Select transcript
- ENST00000366711.4NM_001010867.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads IBA57 yet. The test sequences your whole genome, so your data includes it all the same.
How IBA57 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 7.8 kb of the gene's 16.5 kb; 1,071 of those bases code for the protein.
How a genome test reads IBA57
29
positions in IBA57 where ClinVar classes a change as pathogenic or likely pathogenic
1 of them (3.4%) falls in a region short reads find hard.
- Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
A whole genome covers all 16.5 kb of IBA57, introns included, not only the 7.8 kb of exons.
Traits linked to IBA57
The Human Phenotype Ontology lists these as features of the rare conditions IBA57 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Degeneration of cerebrum
- Elevated brain choline level by MRS
- More grooves in brain
- Underdevelopment of part of brain called corpus callosum
- Ventriculomegaly
- Loss of developmental milestones
- Peripheral axonal neuropathy
- Abnormal gait
Show 19 more traits
- Brisk knee jerk
- Cavitating leukodystrophy
- Distal peripheral sensory neuropathy
- Epilepsy
- Global developmental delay
- Intellectual disability
- Leukodystrophy
- Periventricular white matter hyperintensities
- Thin corpus callosum
- Babinski sign
- Elevated brain lactate level by MRS
- Cerebral white matter atrophy
- Degeneration of cerebellum
- Absent reflexes
- Cognitive impairment
- Decreased sensation in extremities
- Encephalopathy
- Increased reflexes
- Irritability
Laboratory abnormality
- Beta-aminoisobutyric aciduria
- Elevated blood glycine levels
- Elevated lactate:pyruvate ratio
- Increased CSF glycine concentration
- Increased CSF lactate
- Increased lactate in body
- Higher than normal levels of lactate in blood
- Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). IBA57 gene: iron-sulfur cluster assembly factor IBA57. Retrieved 17 October 2026, from https://dantelabs.com/genes/iba57
Dante Labs. IBA57 gene: iron-sulfur cluster assembly factor IBA57 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/iba57
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