LAMA3 - laminin subunit alpha 3 Gene

Also Known as E170; LOCS; BM600; JEB2A; JEB2B; JEB2C; LAMNA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3909

About LAMA3

Cytogenetic location: 18q11.2 Genomic coordinates (GRCh38): 18:23,689,453-23,955,066 (from NCBI)

This gene has 15 transcripts (splice variants), 234 orthologues, 27 paralogues and is associated with 8 phenotypes. Broad expression in lung (RPKM 10.8), stomach (RPKM 10.0) and 18 other tissues.

Summary

The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]

LAMA3 Products (5)

mRNA	Protein	Name
NM_000227.6	NP_000218.3	laminin subunit alpha-3 isoform 2 precursor
NM_001127717.4	NP_001121189.2	laminin subunit alpha-3 isoform 3 precursor
NM_001127718.4	NP_001121190.2	laminin subunit alpha-3 isoform 4 precursor
NM_001302996.2	NP_001289925.1	laminin subunit alpha-3 isoform 5 precursor
NM_198129.4	NP_937762.2	laminin subunit alpha-3 isoform 1 precursor

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	References	Source
involved in endodermal cell differentiation	IEP IEP: Inferred from expression pattern	23154389	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LAMA3 Protein Structure

Laminin_N

Laminin_EGF

Laminin_B

Laminin_EGF

Laminin_I

Laminin_II

Laminin_G_1

Laminin_G_2

0
600
1200
1800
2400
3000
3333 a.a.

Protein Preferred Names	Protein Names
laminin subunit alpha-3	BM600 150kD subunit

LAMA3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81803	Laminin alpha 3 Antibody (YA1548)	WB, ICC/IF	Human

Related Diseases

Diseases	Alias
Epidermolysis Bullosa, Junctional 2c, Laryngoonychocutaneous	Laryngoonychocutaneous Syndrome Logic Syndrome Laryngo-Onycho-Cutaneous Syndrome Locs JEB2C Loc Syndrome Shabbir Syndrome Jeb-Loc Laryngeal And Ocular Granulation Tissue In Children From The Indian Subcontinent Syndrome Laryngo-Onychocutaneous Syndrome
Epidermolysis Bullosa, Junctional 2a, Intermediate	JEB2A Epidermolysis Bullosa, Junctional 2a, Generalized Intermediate Epidermolysis Bullosa, Junctional 2a, Non-Herlitz Type
Epidermolysis Bullosa, Junctional 2b, Severe	JEB2B Epidermolysis Bullosa, Junctional 2b, Generalized Severe Epidermolysis Bullosa, Junctional 2b, Herlitz Type
Epidermolysis Bullosa, Junctional 1b, Severe	Epidermolysis Bullosa, Junctional, Herlitz Type Epidermolysis Bullosa Letalis JEB1B Epidermolysis Bullosa Junctionalis, Herlitz Type Jeb-Herlitz Type Herlitz-Pearson-Type Epidermolysis Bullosa Junctional Epidermolysis Bullosa Herlitz Type Jeb-H Junctional Epidermolysis Bullosa Generalisata Gravis Junctional Epidermolysis Bullosa, Herlitz-Pearson Type Epidermolysis Bullosa, Junctional, Generalized Severe Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type Herlitz Type Epidermolysis Bullosa Junctionalis Severe Generalized Junctional Epidermolysis Bullosa Junctional Epidermolysis Bullosa, Herlitz Type Severe Generalized Jeb Epidermolysis Letalis Junctional Epidermolysis Bullosa Gravis Junctional Epidermolysis Bullosa Herlitz-Pearson Type Herlitz Disease
Epidermolysis Bullosa, Junctional 1a, Intermediate	Jeb-I JEB1A Epidermolysis Bullosa Junctionalis, Disentis Type Junctional Epidermolysis Bullosa Inversa Generalized Atrophic Benign Epidermolysis Bullosa Epidermolysis Bullosa, Junctional 1a, Generalized Intermediate Epidermolysis Bullosa, Junctional 1a, Non-Herlitz Type Epidermolysis Bullosa Junctionalis, Non-Herlitz Type Epidermolysis Bullosa Junctionalis, Progressive Epidermolysis Bullosa Junctionalis, Severe Nonlethal Localized Junctional Epidermolysis Bullosa Jeb-Nh Loc Junctional Epidermolysis Bullosa, Non-Herlitz Localized Type Localized Jeb Intermediate Generalized Junctional Epidermolysis Bullosa Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type Intermediate Generalized Jeb Junctional Epidermolysis Bullosa Generalisata Mitis Junctional Epidermolysis Bullosa, Disentis Type Jeb Inversa Epidermolysis Bullosa Atrophicans Generalisata Mitis Epidermolysis Bullosa Junctionalis Disentis Type Epidermolysis Bullosa Junctionalis Progressive Epidermolysis Bullosa Junctionalis Severe Non-Lethal Gabeb Generalized Junctional Epidermolysis Bullosa Mitis Non-Herlitz Junctional Epidermolysis Bullosa Epidermolysis Bullosa Inversa Dystrophica
Junctional Epidermolysis Bullosa	Epidermolysis Bullosa, Junctional Jeb Epidermolysis Bullosa Atrophicans Congenital Junctional Epidermolysis Bullosa Epidermolysis Bullosa Junctional Junctional Eb - [Epidermolysis Bullosa] Jeb - [Junctional Epidermolysis Bullosa] Lucidolytic Epidermolysis Bullosa
Junctional Epidermolysis Bullosa Non-Herlitz Type	Junctional Epidermolysis Bullosa, Non-Herlitz Type Gabeb Generalized Atrophic Benign Epidermolysis Bullosa Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type Jeb-Nh Gen Jen-Nh Junctional Epidermolysis Bullosa Generalisata Mitis Junctional Epidermolysis Bullosa, Disentis Type Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Epidermolysis Bullosa	Acantholysis Bullosa Eb
Epidermolysis Bullosa Acquisita	Acquired Epidermolysis Bullosa Eb Acquisita Eba Eba - [Epidermolysis Bullosa Acquisita]
Cicatricial Pemphigoid	Mucous Membrane Pemphigoid Ocular Pemphigoid Benign Mucous Membrane Pemphigoid Benign Mucous Membrane Pemphigoid With Ocular Involvement Benign Mucosal Pemphigoid Pemphigoid, Benign Mucous Membrane Cicatricial Pemphigoid With Ocular Involvement Ocular Pemphigus Cicatricial Pemphigoid Disease Mucosal Pemphigoid Mucosynechial Pemphigoid Pemphigoid Cicatricial Cicatricial Pemphigoid Involving The Eye Ocular Cicatricial Pemphigoid
Pemphigoid
Bullous Pemphigoid	Benign Pemphigus Senile Dermatitis Herpetiformis Old Age Pemphigus Parapemphigus Pemphigoid Pemphigoid Bullous Pemphigoid, Bullous
Epidermolysis Bullosa Simplex	Ebs Epidermolysis Bullosa Intraepidermic Epidermolytic Epidermolysis Bullosa
Epidermolysis Bullosa, Junctional 5b, With Pyloric Atresia	Junctional Epidermolysis Bullosa With Pyloric Atresia Carmi Syndrome Epidermolysis Bullosa, Junctional, With Pyloric Atresia Jeb-Pa JEB5B Epidermolysis Bullosa Junctionalis With Pyloric Atresia Aplasia Cutis Congenita With Gastrointestinal Atresia Epidermolysis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita Eb-Pa-Acc Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome Jeb With Pyloric Atresia Epidermolysis Bullosa Letalis, With Pyloric Atresia Pa-Jeb Epidermolysis Bullosa With Pyloric Atresia
Bullous Skin Disease	Skin Diseases Bullous Skin Diseases, Bullous
Amelogenesis Imperfecta	Ai Congenital Enamel Hypoplasia Al - [Amelogenesis Imperfecta]
Nail Disorder, Nonsyndromic Congenital, 8	Nonsyndromic Congenital Nail Disorder 8 Toenail Dystrophy, Isolated NDNC8 Isolated Toenail Dystrophy Nail Disorder, Non-Syndromic Congenital, 8 Isolated Toenail Dystrophy Without Skin Fragility Nail Disorder, Nonsyndromic Congenital, Type 8
Heimler Syndrome 1	Deafness Enamel Hypoplasia Nail Defects Heimler Syndrome HMLR1 Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects Peroxisome Biogenesis Disorder 1c Pbd1c Deafness-Enamel Hypoplasia-Nail Defects Syndrome Sensorineural Hearing Loss, Enamel Hypoplasia, And Nail Abnormalities Peroxisomal Biogenesis Disorder 1c Bilateral Sensorineural Hearing Loss, Enamel Hypoplasia And Nail Defects Hearing Loss-Enamel Hypoplasia-Nail Defects Syndrome Heimler, Syndrome Heimler Syndrome, Type 1
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Epidermolysis Bullosa Dystrophica	Dystrophic Epidermolysis Bullosa Deb Dermolytic Epidermolysis Bullosa Epidermolysis Bullosa, Dermolytic Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa Dystrophic Dystrophic Eb - [Epidermolysis Bullosa]
Transient Bullous Dermolysis Of The Newborn	TBDN Transient Bullous Of The Newborn Epidermolysis Bullosa Dystrophica, Neonatal Form Dystrophic Epidermolysis Bullosa, Neonatal Deb, Bullous Dermolysis Of The Newborn Deb-Bdn Epidermolysis Bullosa Dystrophica, Dominant Neonatal Form Self-Improving Dystrophic Epidermolysis Bullosa Self-Improving Deb Epidermolysis Bullosa Dystrophica Dominant Neonatal Type
Kindler Syndrome	Poikiloderma Of Kindler Bullous Acrokeratotic Poikiloderma Of Kindler And Weary Congenital Bullous Poikiloderma KNDLRS Poikiloderma, Hereditary Acrokeratotic Poikiloderma, Congenital, With Bullae, Weary Type Kindler'S Syndrome Poikiloderma Congenital With Bullae Weary Type Hereditary Acrokeratotic Poikiloderma Of Kindler-Weary Hereditary Acrokeratotic Poikiloderma Weary Syndrome Poikiloderma Hereditary Acrokeratotic Potassium Deficiency
Recessive Dystrophic Epidermolysis Bullosa	Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type Rdeb, Hallopeau-Siemens Type Severe Generalized Rdeb Severe Generalized Recessive Dystrophic Epidermolysis Bullosa Rdeb Generalisata Gravis Rdeb, Severe Generalized Rdeb-Sev Gen Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized Hallopeau-Siemens Disease
Ciliary Dyskinesia, Primary, 5	Primary Ciliary Dyskinesia 5 CILD5 Ciliary Dyskinesia, Primary, 5, Without Situs Inversus Primary Ciliary Dyskinesia 5 Without Situs Inversus Ics5 Immotile Cilia Syndrome 5 Primary Ciliary Dyskinesia 5 With Or Without Situs Inversus Dyskinesia, Ciliary, Primary, Type 5

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07499	LAMA3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07500	LAMA4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20050	Lama3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26554	Lama3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	LAMA3	RGD	RGD:628776
Macaca mulatta	LAMA3	VGNC	VGNC:74226
Canis familiaris	LAMA3	VGNC	VGNC:42566
Mus musculus	LAMA3	MGD	MGI:99909
Felis catus	LAMA3	VGNC	VGNC:80447
Bos taurus	LAMA3	VGNC	VGNC:30770
Others	LAMA3	NCBI