Gene
FHL1
four and a half LIM domains 1
- HGNC 3702↗(opens in a new tab)
- Ensembl gene ENSG00000022267↗(opens in a new tab)
- NCBI Gene 2273↗(opens in a new tab)
Summary
- Cytogenetic location
- Xq26.3
- Coordinates
- Chromosome X: 136,197,047–136,211,354 (GRCh38)
- Exons
- 6 exons across 14.3 kb
- Protein
- 296 amino acids
- Also known as
- SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107
- MANE Select transcript
- ENST00000370683.6NM_001159699.2
- 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.
Read FHL1, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated report relevant to this gene
Dilated Cardiomyopathy
Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.
How FHL1 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 2.3 kb of the gene's 14.3 kb; 891 of those bases code for the protein.
How a genome test reads FHL1
76
positions in FHL1 where ClinVar classes a change as pathogenic or likely pathogenic
18 of them (24%) fall in regions short reads find hard.
- Segmental duplications (18 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 14.3 kb of FHL1, introns included, not only the 2.3 kb of exons.
Genes linked to the same conditions
- ABCC9ATP binding cassette subfamily C member 9Shares 1 condition
- ACTC1actin alpha cardiac muscle 1Shares 1 condition
- BAG3BAG cochaperone 3Shares 1 condition
- BAG5BAG cochaperone 5Shares 1 condition
- DESdesminShares 1 condition
- DMDdystrophinShares 1 condition
- DOLKdolichol kinaseShares 1 condition
- EMDemerinShares 1 condition
- FKTNfukutinShares 1 condition
- FLIIFLII actin remodeling proteinShares 1 condition
- FLNCfilamin CShares 1 condition
- JPH2junctophilin 2Shares 1 condition
Traits linked to FHL1
The Human Phenotype Ontology lists these as features of the rare conditions FHL1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Back pain
- Decreased lung function due to weak breathing muscles
- Difficulty running
- Flexed joint that cannot be straightened
- Hamstring contractures
- Increased skeletal muscle cells
- Increased variability in muscle fiber diameter
- Muscle degeneration
Show 24 more traits
- Permanent flexion of the finger or toe
- Proximal neurogenic muscle weakness
- Reduced spine movement
- Rimmed vacuoles
- Scapuloperoneal weakness
- Scoliosis
- EMG: myopathic abnormalities
- Funnel chest
- Joint stiffness
- Muscle tissue disease
- Myotonia
- Absent muscle fiber emerin
- High shoulder blade
- Inability to touch chin to chest
- Kyphoscoliosis
- Poor head control
- Type 1 muscle fiber atrophy
- Forearm supination contracture
- Hunched back
- Inability to make and keep healthy fat tissue
- Low muscle tone
- Prominent swayback
- Frequent falls
- Myofibrillar myopathy
Abnormality of limbs
- Bunion
- Foot drop
- Shortening of the achilles tendon
- Winged shoulder blade
- Limb-girdle muscular dystrophy
- Club feet
- Dislocated hip since birth
- Dislocation of toes
Show 13 more traits
- High-arched foot
- Proximal lower limb muscle weakness
- Proximal upper limb amyotrophy
- Proximal upper limb muscle weakness
- Wasting of thigh muscle
- Elbow flexion contracture
- Inability to straighten knee
- Broad palm
- Camptodactyly of toe
- Joint contracture of the hand
- Limited elbow movement
- Lower limb muscle weakness
- Scapuloperoneal myopathy
Abnormality of the nervous system
- Loss of ability to walk
- Decreased reflex response
- Diminished deep tendon reflex
- Abnormal gait
- Toe walking
- Waddling gait
- Inability to move vocal cords
- Absent reflexes
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.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- 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.). FHL1 gene: four and a half LIM domains 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/fhl1
Dante Labs. FHL1 gene: four and a half LIM domains 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fhl1
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks