LAMA3 - laminin subunit alpha 3 Gene

Homo sapiens

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

Gene ID: 3909 | Gene type: protein coding

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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07499	LAMA3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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