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
RS781177649 Health Risk Pathogenic
RS868403677 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS957219392 Health Risk Pathogenic
RS1554789671 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS770311615 Health Risk Pathogenic/Likely pathogenic
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