InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LAMB3

Summary

InnateDB Protein

IDBP-389991.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LAMB3

Protein Name

laminin, beta 3

Synonyms

BM600-125KDA; LAM5; LAMNB1;

Species

Homo sapiens

Ensembl Protein

ENSP00000398683

InnateDB Gene

IDBG-106421 (LAMB3)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Secreted, extracellular space, extracellular matrix, basement membrane.

Disease Associations

Epidermolysis bullosa, junctional, Herlitz type (H-JEB) [MIM:226700]: An infantile and lethal form of junctional epidermolysis bullosa, a group of blistering skin diseases characterized by tissue separation which occurs within the dermo- epidermal basement In the Herlitz type, death occurs usually within the first six months of life. Occasionally, children survive to teens. It is marked by bullous lesions at birth and extensive denudation of skin and mucous membranes that may be hemorrhagic. {ECO:0000269PubMed:7550237}. Note=The disease is caused by mutations affecting the gene represented in this entry.Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]: A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. {ECO:0000269PubMed:17476356, ECO:0000269PubMed:9767254}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Found in the basement membranes (major component).

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.