Gene
MACF1
microtubule actin crosslinking factor 1
- HGNC 13664(opens in a new tab)
- Ensembl gene ENSG00000127603(opens in a new tab)
- NCBI Gene 23499(opens in a new tab)
Summary
- Cytogenetic location
- 1p34.3
- Coordinates
- Chromosome 1: 39,204,695–39,487,138 (GRCh38)
- Exons
- 101 exons across 282.4 kb
- Protein
- 7,555 amino acids
- Also known as
- KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776, Lnc-PMIF
- Previous symbols
- KIAA0754
- MANE Select transcript
- ENST00000564288.6NM_001394062.1
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads MACF1 yet. The test sequences your whole genome, so your data includes it all the same.
How MACF1 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 24.3 kb of the gene's 282.4 kb; 22,668 of those bases code for the protein.
How a genome test reads MACF1
14
positions in MACF1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 282.4 kb of MACF1, introns included, not only the 24.3 kb of exons.
Traits linked to MACF1
The Human Phenotype Ontology lists these as features of the rare conditions MACF1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Dysgenesis of the hippocampus
- Epilepsy
- Fewer and broader ridges in brain
- Fewer or absent grooves in brain
- Global developmental delay
- Hypoplastic anterior commissure
- Intellectual disability, severe
- Abnormal hippocampus morphology
Show 19 more traits
- Abnormality of the anterior commissure
- Absent/small cerebellum
- Delayed ability to walk
- Hypoplasia of the pons
- Neurodevelopmental delay
- Small brainstem
- Absent speech development
- Cerebellar hemisphere hypoplasia
- Cerebellar vermis hypoplasia
- Delayed ability to sit
- Focal impaired awareness seizure
- Grand mal seizures
- Involuntary movements
- Myoclonic seizure
- Thin corpus callosum
- Underdevelopment of part of brain called corpus callosum
- Enlarged tectum
- Infantile spasms
- Repetitive movements
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.). MACF1 gene: microtubule actin crosslinking factor 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/macf1
Dante Labs. MACF1 gene: microtubule actin crosslinking factor 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/macf1
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