LAMA2 Chromosome 6
Laminin subunit alpha 2
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What This Gene Does
Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Laminin subunits
Locus Type
gene with protein product
Location
6q22.33
Ensembl
ENSG00000196569
Associated Conditions (35)
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Myalgia
Elevated circulating creatine kinase concentration
Exercise-induced myalgia
Muscular dystrophy
limb-girdle
autosomal recessive 23
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related disorder
Intellectual disability
Inborn genetic diseases
Malignant tumor of esophagus
Primary dilated cardiomyopathy
Malignant tumor of urinary bladder
Familial cancer of breast
Ovarian cancer
Cervical cancer
Rare genetic intellectual disability
See cases
+15 more conditions
Key Variants
RS1012171328
Conflicting classifications of pathogenicity
Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
Health Risk
RS1024374408
Conflicting classifications of pathogenicity
Myalgia, Elevated circulating creatine kinase concentration, Exercise-induced myalgia
Health Risk
RS1057523624
Conflicting classifications of pathogenicity
LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
Health Risk
RS1057524616
Conflicting classifications of pathogenicity
LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
Health Risk
RS1064795750
Conflicting classifications of pathogenicity
Muscular dystrophy, limb-girdle, autosomal recessive 23
Health Risk
RS111632017
Conflicting classifications of pathogenicity
Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related disorder, LAMA2-related muscular dystrophy
Health Risk
RS112388307
Conflicting classifications of pathogenicity
LAMA2-related muscular dystrophy, LAMA2-related disorder, LAMA2-related muscular dystrophy
Health Risk
RS112637707
Conflicting classifications of pathogenicity
LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related disorder
Health Risk
RS113022759
Conflicting classifications of pathogenicity
LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy, Muscular dystrophy
Health Risk
RS115488979
Conflicting classifications of pathogenicity
Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy, LAMA2-related disorder
Health Risk
RS115650537
Conflicting classifications of pathogenicity
LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related disorder
Health Risk
RS117116822
Conflicting classifications of pathogenicity
LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related disorder
Health Risk
All Variants (1142)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2482559726 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2482575909 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS2482584694 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2482596558 | Health Risk | Likely pathogenic | LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS2482605485 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2482605583 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS2482605715 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2482605796 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS2482625026 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2482625148 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS2482626823 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2482627236 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2482628074 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS2482628114 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2482628176 | Health Risk | Likely pathogenic | LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS2482639860 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS2482640047 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2482669962 | Health Risk | Likely pathogenic | LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS2482670548 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2482690290 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS2482690956 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2482725233 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2482729637 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2482736603 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2482737064 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS2482767348 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2482767452 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2482776118 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2482776159 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS2482776338 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2482776474 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS2482776508 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2482777785 | Health Risk | Likely pathogenic | — |
| RS2482777806 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS2482777827 | Health Risk | Likely pathogenic | — |
| RS2533295360 | Health Risk | Likely pathogenic | LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS2533298071 | Health Risk | Likely pathogenic | LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy |
| RS2533298096 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2533298429 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2533301556 | Health Risk | Likely pathogenic | LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS2533301924 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS2533301982 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2533352412 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2533379741 | Health Risk | Likely pathogenic | LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS2533385443 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS2533386033 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2533386141 | Health Risk | Likely pathogenic | Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle |
| RS2533392062 | Health Risk | Likely pathogenic | LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS2533398638 | Health Risk | Likely pathogenic | LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS2533416106 | Health Risk | Likely pathogenic | LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |