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)
Triplosensitivity:
Not Yet Evaluated
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)