Gene: LAMC1

Alternate names for this Gene: LAMB2

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, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have 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 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis.

Gene is located in Chromosome: 1

Location in Chromosome : 1q25.3

Description of this Gene: laminin subunit gamma 1

Type of Gene: protein-coding

rs10911251 in LAMC1 gene and Adenocarcinoma of large intestine PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs6678517 in LAMC1 gene and Adenoma of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs4129858 in LAMC1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs10797816 in LAMC1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs10911251 in LAMC1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs10911251 in LAMC1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs10911251 in LAMC1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs10911251 in LAMC1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs10911251 in LAMC1 gene and Colorectal Carcinoma PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs10911251 in LAMC1 gene and Colorectal Neoplasms PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs41475048 in LAMC1 gene and Diastolic blood pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs3768617 in LAMC1 gene and Fuchs Endothelial Dystrophy PMID 28358029 2017 Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy.

rs10911205 in LAMC1 gene and Hypertriglyceridemia PMID 27599772 2017 A common variant association study in ethnic Saudi Arabs reveals novel susceptibility loci for hypertriglyceridemia.

rs10911251 in LAMC1 gene and Malignant neoplasm of large intestine PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs10911251 in LAMC1 gene and Malignant tumor of colon PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.