LAMA3
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
LAMA3 (HGNC:6483) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
laminin subunit alpha 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
LAMNA
Alias symbols
nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin
%HI
64.13(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.73(Read more about gnomAD LOEUF score)
Cytoband
18q11.2
Genomic Coordinates
GRCh37/hg19: chr18:21269417-21535030 NCBI Ensembl UCSC
GRCh38/hg38: chr18:23689453-23955066 NCBI Ensembl UCSC
MANE Select Transcript
NM_198129.4 ENST00000313654.14 (Read more about MANE Select)
MANE Plus Clinical Transcript(s)
NM_000227.6 ENST00000269217.11 (Read more about MANE Plus Clinical)
Function
Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Laminin-5 is thought to be involved in (1) cell adhesion via integrin alpha-3/beta-1 in focal adhesion and integrin alpha-6/beta-4 in hemidesmosomes, (2) signal transduction via tyrosine phosphorylation of pp125-FAK and p80, (3) differentiation of keratinocytes. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-24235
ClinGen Curation ID:
CCID:007387
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • junctional epidermolysis bullosa Monarch
HI Evidence Comments:
Biallelic variants in the LAMA3 gene have been associated with the diseases Laryngoonychocutaneous syndrome, Epidermolysis bullosa, junctional, Herlitz type, and Epidermolysis bullosa, generalized atrophic benign in OMIM. These diseases have significant phenotypic overlap so a more general MONDO term, junctional epidermolysis bullosa (MONDO:0017612), has been selected for this curation.

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000018.9) (NC_000018.10)