LAMC3 Chromosome 9

Laminin subunit gamma 3
155 variants 155 Health Risk

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What This Gene Does
Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
Laminin subunits
Locus Type
gene with protein product
Location
9q34.12
Ensembl
ENSG00000050555
Associated Conditions (15)
Inborn genetic diseases
Occipital pachygyria and polymicrogyria
LAMC3-related disorder
Clear cell carcinoma of kidney
Malignant tumor of esophagus
Melanoma
Ovarian cancer
Left ventricular noncompaction
Colon adenocarcinoma
Hepatocellular carcinoma
See cases
Intellectual disability
Thyroid cancer
nonmedullary
1
Key Variants
RS1055925150
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057207177
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057520165
Conflicting classifications of pathogenicity
Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
Health Risk
RS113354770
Conflicting classifications of pathogenicity
Occipital pachygyria and polymicrogyria, Inborn genetic diseases, Occipital pachygyria and polymicrogyria
Health Risk
RS113443891
Conflicting classifications of pathogenicity
Occipital pachygyria and polymicrogyria, Inborn genetic diseases, LAMC3-related disorder
Health Risk
RS113785045
Conflicting classifications of pathogenicity
Inborn genetic diseases, LAMC3-related disorder, Inborn genetic diseases
Health Risk
RS1238856355
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1377008496
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS137883250
Conflicting classifications of pathogenicity
Health Risk
RS138481447
Conflicting classifications of pathogenicity
Occipital pachygyria and polymicrogyria, Inborn genetic diseases, LAMC3-related disorder
Health Risk
RS139905505
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140325029
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (155)
RSID Category Clinical Significance Conditions
RS1350575526 Health Risk Pathogenic
RS1392447890 Health Risk Pathogenic
RS1392915838 Health Risk Pathogenic
RS1396707186 Health Risk Pathogenic
RS1415783548 Health Risk Pathogenic
RS141823760 Health Risk Pathogenic
RS1426926688 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1437712014 Health Risk Pathogenic
RS1441983264 Health Risk Pathogenic
RS1454292836 Health Risk Pathogenic
RS1564365706 Health Risk Pathogenic Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS1564375476 Health Risk Pathogenic
RS1829991127 Health Risk Pathogenic
RS1833941275 Health Risk Pathogenic
RS1833990360 Health Risk Pathogenic
RS1834422689 Health Risk Pathogenic
RS1834422790 Health Risk Pathogenic
RS201519274 Health Risk Pathogenic Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS2133193530 Health Risk Pathogenic
RS2133193948 Health Risk Pathogenic Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS2133281256 Health Risk Pathogenic
RS2133299037 Health Risk Pathogenic
RS2133312126 Health Risk Pathogenic
RS2133327116 Health Risk Pathogenic
RS2133335629 Health Risk Pathogenic
RS2133344366 Health Risk Pathogenic
RS2490641031 Health Risk Pathogenic
RS2490707870 Health Risk Pathogenic
RS2490714886 Health Risk Pathogenic
RS2538293259 Health Risk Pathogenic
RS2538293436 Health Risk Pathogenic
RS2538304207 Health Risk Pathogenic
RS2538308956 Health Risk Pathogenic
RS2538309608 Health Risk Pathogenic Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS2538321424 Health Risk Pathogenic
RS376262461 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS387906887 Health Risk Pathogenic Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS537864425 Health Risk Pathogenic
RS556275584 Health Risk Pathogenic
RS561893279 Health Risk Pathogenic
RS746299403 Health Risk Pathogenic
RS746401119 Health Risk Pathogenic
RS746869680 Health Risk Pathogenic
RS754797409 Health Risk Pathogenic
RS756058789 Health Risk Pathogenic
RS762738493 Health Risk Pathogenic
RS765163533 Health Risk Pathogenic
RS768306978 Health Risk Pathogenic
RS769118642 Health Risk Pathogenic
RS775904966 Health Risk Pathogenic
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