Gene
LAMA2
laminin subunit alpha 2
- HGNC 6482(opens in a new tab)
- Ensembl gene ENSG00000196569(opens in a new tab)
- NCBI Gene 3908(opens in a new tab)
Summary
- Cytogenetic location
- 6q22.33
- Coordinates
- Chromosome 6: 128,883,138–129,516,566 (GRCh38)
- Exons
- 65 exons across 633.4 kb
- Protein
- 3,122 amino acids
- Inheritance
- Autosomal recessive
- Previous symbols
- LAMM
- MANE Select transcript
- ENST00000421865.3NM_000426.4
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Congenital Muscular Dystrophies
- LAMA2-related muscular dystrophyAutosomal recessive
A muscular dystrophy caused by variants in LAMA2 (merosin), usually presenting in infancy with marked weakness and low muscle tone.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
- Congenital muscular dystrophy
A group of muscular dystrophies with onset at birth or in infancy, including dystroglycanopathies (such as FKRP, FKTN and POMT1/2-related forms).
- 3 GenCC submitters rate it definitive or strong
Limb-Girdle Muscular Dystrophy
Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.
- 1 GenCC submitter rates it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How LAMA2 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 9.7 kb of the gene's 633.4 kb; 9,369 of those bases code for the protein.
How a genome test reads LAMA2
928
positions in LAMA2 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 633.4 kb of LAMA2, introns included, not only the 9.7 kb of exons.
Traits linked to LAMA2
The Human Phenotype Ontology lists these as features of the rare conditions LAMA2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Difficulty running
- Gowers sign
- Hunched back
- Increased variability in muscle fiber diameter
- Internally nucleated skeletal muscle fibers
- Low muscle tone
- Muscle weakness
- Absent muscle fiber merosin
Show 16 more traits
- Increased connective tissue
- Muscle fiber degeneration
- Muscular dystrophy
- Difficulty walking up stairs
- EMG abnormality
- Flexed joint that cannot be straightened
- Exercise-induced muscle cramps
- Kyphoscoliosis
- Low muscle tone, in neonatal onset
- Muscle weakness between ribs
- Neck flexion weakness
- Prominent swayback
- Scoliosis
- Decreased lung function due to weak breathing muscles
- Elevated muscle fiber laminin alpha 5 expression
- Increased endomysial connective tissue
Abnormality of the nervous system
- Abnormal cerebral white matter morphology
- Absent reflexes
- Axonal degeneration
- Decreased nerve conduction velocity
- Motor delay
- Nerve damage causing decreased feeling and movement
- Decreased muscle movement
- Epilepsy
Show 15 more traits
- Inability to walk
- Abnormal brainstem MRI signal intensity
- Astrocytosis
- Intellectual disability
- Brief seizures with staring spells
- Cognitive impairment
- Delayed ability to walk
- Diminished deep tendon reflex
- Fewer and broader ridges in brain
- Fewer or absent grooves in brain
- Pontocerebellar atrophy
- Seizure affecting one half of brain
- Waddling gait
- Abnormal cortical gyration
- Hypointensity of cerebral white matter on MRI
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.). LAMA2 gene: laminin subunit alpha 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/lama2
Dante Labs. LAMA2 gene: laminin subunit alpha 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/lama2
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