Gene: LAMC3

Alternate names for this Gene: OCCM

Gene Summary: 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.12

Description of this Gene: laminin subunit gamma 3

Type of Gene: protein-coding

rs571785750 in LAMC3 gene and CORTICAL MALFORMATIONS, OCCIPITAL PMID 21572413 2011 Recessive LAMC3 mutations cause malformations of occipital cortical development.

rs1426926688 in LAMC3 gene and Dysmorphic features PMID 21572413 2011 Recessive LAMC3 mutations cause malformations of occipital cortical development.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

rs138913144 in LAMC3 gene and Endometriosis PMID 28333195 2017 Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis.

rs77452476 in LAMC3 gene and Malignant neoplasm of anterior portion of floor of mouth PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs77452476 in LAMC3 gene and Malignant neoplasm of floor of mouth PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs77452476 in LAMC3 gene and Malignant neoplasm of lateral floor of mouth PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs77452476 in LAMC3 gene and Malignant neoplasm of mouth PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

PMID 27749845 2016 Oral cancer was associated with two new regions, 2p23.3 (rs6547741, GPN1) and 9q34.12 (rs928674, LAMC3), and with known cancer-related loci-9p21.3 (rs8181047, CDKN2B-AS1) and 5p15.33 (rs10462706, CLPTM1L).

rs77452476 in LAMC3 gene and Malignant neoplasm of other sites within the lip and oral cavity PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs77452476 in LAMC3 gene and Malignant neoplasm of other specified parts of mouth PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs1426926688 in LAMC3 gene and Muscle hypotonia PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 21572413 2011 Recessive LAMC3 mutations cause malformations of occipital cortical development.

rs77452476 in LAMC3 gene and Pharyngeal Neoplasms PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.