LAMA1 laminin subunit alpha 1
Gene ID: 284217, updated on 11-Apr-2024Gene type: protein coding
Also known as: LAMA; PTBHS; S-LAM-alpha
- See all available tests in GTR for this gene
- Go to complete Gene record for LAMA1
- Go to Variation Viewer for LAMA1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study reveals susceptibility variants for non-small cell lung cancer in the Korean population. GeneReviews: Not available | |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | See labs |
| Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D. GeneReviews: Not available | |
| Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. GeneReviews: Not available |
Genomic context
- Location:
- 18p11.31
- Sequence:
- Chromosome: 18; NC_000018.10 (6941742..7117797, complement)
- Total number of exons:
- 63
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for LAMA1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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