| UniProt Protein Function: | LAMA3: 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. Defects in LAMA3 are a cause of epidermolysis bullosa junctional Herlitz type (H-JEB); also known as junctional epidermolysis bullosa Herlitz-Pearson type. JEB defines a group of blistering skin diseases characterized by tissue separation which occurs within the dermo-epidermal basement membrane. H-JEB is a severe, infantile and lethal form. Death occurs usually within the first six months of life. Occasionally, children survive to teens. H-JEB is marked by bullous lesions at birth and extensive denudation of skin and mucous membranes that may be hemorrhagic. Defects in LAMA3 are the cause of laryngoonychocutaneous syndrome (LOCS). LOCS is an autosomal recessive epithelial disorder confined to the Punjabi Muslim population. The condition is characterized by cutaneous erosions, nail dystrophy and exuberant vascular granulation tissue in certain epithelia, especially conjunctiva and larynx. 3 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Motility/polarity/chemotaxis; Secreted; Secreted, signal peptide Chromosomal Location of Human Ortholog: 18q11.2 Cellular Component: laminin-5 complex; laminin-1 complex; extracellular region; basement membrane Molecular Function:structural molecule activity; receptor binding Biological Process: regulation of cell adhesion; extracellular matrix disassembly; hemidesmosome assembly; epidermis development; extracellular matrix organization and biogenesis; regulation of embryonic development; cell adhesion; regulation of cell migration Disease: Epidermolysis Bullosa, Junctional, Non-herlitz Type; Laryngoonychocutaneous Syndrome; Epidermolysis Bullosa, Junctional, Herlitz Type |
| NCBI Summary: | Laminins are basement membrane components thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. The protein encoded by this gene is the alpha-3 subunit of laminin 5, which is a complex glycoprotein composed of three subunits (alpha, beta, and gamma). Laminin 5 is thought to be involved in cell adhesion, signal transduction and differentiation of keratinocytes. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q16787 |
| NCBI GenInfo Identifier: | 551599 |
| NCBI Gene ID: | 3909 |
| NCBI Accession: | AAA59484.1 |
| UniProt Secondary Accession: | Q16787,Q13679, Q13680, Q6VU67, Q6VU68, Q6VU69, Q76E14 Q96TG0, B0YJ33, |
| UniProt Related Accession: | Q16787 |
| Molecular Weight: | 184,054 Da |
| NCBI Full Name: | epiligrin alpha 3 subunit, partial |
| NCBI Synonym Full Names: | laminin, alpha 3 |
| NCBI Official Symbol: | LAMA3 |
| NCBI Official Synonym Symbols: | E170; LOCS; BM600; LAMNA; lama3a |
| NCBI Protein Information: | laminin subunit alpha-3; BM600 150kD subunit; nicein 150kD subunit; nicein subunit alpha; kalinin 165kD subunit; kalinin subunit alpha; epiligrin subunit alpha; laminin-5 alpha 3 chain; laminin-5 subunit alpha; laminin-6 subunit alpha; laminin-7 subunit alpha; epiligrin 170 kda subunit; epiligrin alpha 3 subunit; laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin) |
| UniProt Protein Name: | Laminin subunit alpha-3 |
| UniProt Synonym Protein Names: | Epiligrin 170 kDa subunit; E170; Epiligrin subunit alpha; Kalinin subunit alpha; Laminin-5 subunit alpha; Laminin-6 subunit alpha; Laminin-7 subunit alpha; Nicein subunit alpha |
| UniProt Gene Name: | LAMA3 |
| UniProt Entry Name: | LAMA3_HUMAN |
