LAMA1

Chr 18

laminin subunit alpha 1

Also known as: LAMA, PTBHS, S-LAM-alpha

NCBI Gene: 284217ENSG00000101680UniProt: P25391

This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome. [provided by RefSeq, Sep 2014]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPoretti-Boltshauser syndrome

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
32
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.62
LOEUF
LOF
Mechanism· G2P
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GeneReview available — LAMA1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.62LOEUF
pLI 0.000
Z-score 5.54
OE 0.51 (0.43–0.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.14Z-score
OE missense 1.01 (0.97–1.05)
1731 obs / 1715.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.51 (0.43–0.62)
0≤0.351.4
Missense OE?1.01 (0.97–1.05)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 78 / 151.6Missense obs/exp: 1731 / 1715.1Syn Z: -1.31

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LAMA1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients