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
RS1055925150 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1057207177 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1057520165 Health Risk Conflicting classifications of pathogenicity Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS113354770 Health Risk Conflicting classifications of pathogenicity Occipital pachygyria and polymicrogyria, Inborn genetic diseases, Occipital pachygyria and polymicrogyria
RS113443891 Health Risk Conflicting classifications of pathogenicity Occipital pachygyria and polymicrogyria, Inborn genetic diseases, LAMC3-related disorder
RS113785045 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMC3-related disorder, Inborn genetic diseases
RS1238856355 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1377008496 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS137883250 Health Risk Conflicting classifications of pathogenicity
RS138481447 Health Risk Conflicting classifications of pathogenicity Occipital pachygyria and polymicrogyria, Inborn genetic diseases, LAMC3-related disorder
RS139905505 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140325029 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140540789 Health Risk Conflicting classifications of pathogenicity LAMC3-related disorder, Clear cell carcinoma of kidney, Malignant tumor of esophagus
RS140955110 Health Risk Conflicting classifications of pathogenicity Occipital pachygyria and polymicrogyria, Inborn genetic diseases, LAMC3-related disorder
RS141497885 Health Risk Conflicting classifications of pathogenicity Occipital pachygyria and polymicrogyria, LAMC3-related disorder, Occipital pachygyria and polymicrogyria
RS141724499 Health Risk Conflicting classifications of pathogenicity LAMC3-related disorder, LAMC3-related disorder
RS141896314 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Occipital pachygyria and polymicrogyria, Inborn genetic diseases
RS141918703 Health Risk Conflicting classifications of pathogenicity Clear cell carcinoma of kidney, Colon adenocarcinoma, Clear cell carcinoma of kidney
RS142041428 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142796007 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143410330 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144118534 Health Risk Conflicting classifications of pathogenicity LAMC3-related disorder, Inborn genetic diseases, LAMC3-related disorder
RS144242690 Health Risk Conflicting classifications of pathogenicity Hepatocellular carcinoma, Hepatocellular carcinoma
RS144662546 Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases, LAMC3-related disorder
RS145387373 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146221263 Health Risk Conflicting classifications of pathogenicity Occipital pachygyria and polymicrogyria, Inborn genetic diseases, LAMC3-related disorder
RS147088114 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147092908 Health Risk Conflicting classifications of pathogenicity LAMC3-related disorder, LAMC3-related disorder
RS148481163 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Occipital pachygyria and polymicrogyria, Inborn genetic diseases
RS149004188 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMC3-related disorder, Inborn genetic diseases
RS149485800 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMC3-related disorder, Inborn genetic diseases
RS150559384 Health Risk Conflicting classifications of pathogenicity
RS150699964 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150859618 Health Risk Conflicting classifications of pathogenicity LAMC3-related disorder, Inborn genetic diseases, LAMC3-related disorder
RS150965854 Health Risk Conflicting classifications of pathogenicity
RS151213335 Health Risk Conflicting classifications of pathogenicity LAMC3-related disorder, LAMC3-related disorder
RS186634083 Health Risk Conflicting classifications of pathogenicity Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS192031352 Health Risk Conflicting classifications of pathogenicity Intellectual disability, LAMC3-related disorder, Intellectual disability
RS199535979 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction, Left ventricular noncompaction
RS199978510 Health Risk Conflicting classifications of pathogenicity
RS201011683 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases, Intellectual disability
RS201626968 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201785610 Health Risk Conflicting classifications of pathogenicity LAMC3-related disorder, Inborn genetic diseases, LAMC3-related disorder
RS201793200 Health Risk Conflicting classifications of pathogenicity Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS202112145 Health Risk Conflicting classifications of pathogenicity LAMC3-related disorder, LAMC3-related disorder
RS36030184 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMC3-related disorder, Inborn genetic diseases
RS367784109 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Occipital pachygyria and polymicrogyria, Inborn genetic diseases
RS369682316 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369839636 Health Risk Conflicting classifications of pathogenicity
RS370821927 Health Risk Conflicting classifications of pathogenicity Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
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