Gene
LAMA3
laminin subunit alpha 3
- HGNC 6483↗(opens in a new tab)
- Ensembl gene ENSG00000053747↗(opens in a new tab)
- NCBI Gene 3909↗(opens in a new tab)
Summary
- Cytogenetic location
- 18q11.2
- Coordinates
- Chromosome 18: 23,689,453–23,955,066 (GRCh38)
- Exons
- 75 exons across 265.6 kb
- Protein
- 3,333 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin
- Previous symbols
- LAMNA
- MANE Select transcript
- ENST00000313654.14NM_198129.4
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Epidermolysis Bullosa
- Epidermolysis Bullosa, Junctional 2a, IntermediateAutosomal recessive
- 1 GenCC submitter rates it definitive or strong
- Epidermolysis Bullosa, Junctional 2b, SevereAutosomal recessive
- 1 GenCC submitter rates it definitive or strong
- Inherited epidermolysis bullosa
All inherited forms of skin fragility with blistering, including simplex, junctional and dystrophic epidermolysis bullosa and Kindler syndrome.
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Recessive dystrophic forms need regular skin cancer surveillance, and gene-based wound therapy is now available for dystrophic EB.
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 LAMA3 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 10.7 kb of the gene's 265.6 kb; 10,002 of those bases code for the protein.
How a genome test reads LAMA3
88
positions in LAMA3 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 265.6 kb of LAMA3, introns included, not only the 10.7 kb of exons.
Genes linked to the same conditions
- CD151CD151 molecule (Raph blood group)Shares 1 condition
- COL17A1collagen type XVII alpha 1 chainShares 1 condition
- COL7A1collagen type VII alpha 1 chainShares 1 condition
- DSPdesmoplakinShares 1 condition
- DSTdystoninShares 1 condition
- EXPH5exophilin 5Shares 1 condition
- FERMT1FERM domain containing kindlin 1Shares 1 condition
- ITGA3integrin subunit alpha 3Shares 1 condition
- ITGA6integrin subunit alpha 6Shares 1 condition
- ITGB4integrin subunit beta 4Shares 1 condition
- JUPjunction plakoglobinShares 1 condition
- KLHL24kelch like family member 24Shares 1 condition
Traits linked to LAMA3
The Human Phenotype Ontology lists these as features of the rare conditions LAMA3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the integument
- Abnormal blistering of the skin
- Hypoplastic dermoepidermal hemidesmosomes
- Lamina lucida cleavage
- Poor nail formation
- Abnormal skin pigmentation
- Abnormality of the nail
- Absence of part of skin at birth
- Fragile skin
Show 16 more traits
- Milk spot
- Open skin sore
- Skin erosion
- Skin plaque
- Sparse body hair
- Sunken or indented skin due to damage
- Abnormal periungual morphology
- Absent nails
- Exuberant granulation tissue
- Paronychia
- Subepidermal blistering
- Hair loss
- Squamous cell carcinoma
- Atypical nail growth
- Congenital localized absence of skin
- Recurrent loss of toenails and fingernails
Abnormality of head or neck
- Oral mucosal blisters
- Surfer's eye
- Thin dental enamel
- Abnormality of lining of mouth
- Hair loss on scalp from scarring condition
- Decreased size of tooth
- Delayed eruption of teeth
- Dental cavities
Show 3 more traits
Abnormality of the respiratory system
- Subglottic stenosis
- Breathing difficulty
- Inspiratory stridor
- Noisy breathing
- Abnormality of the upper respiratory tract
- Abnormality of the vocal cords
- Breathing difficulties
- Laryngeal stenosis
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.). LAMA3 gene: laminin subunit alpha 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/lama3
Dante Labs. LAMA3 gene: laminin subunit alpha 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/lama3
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