Gene: LAMA1

Alternate names for this Gene: LAMA|PTBHS|S-LAM-alpha

Gene Summary: This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome.

Gene is located in Chromosome: 18

Location in Chromosome : 18p11.31

Description of this Gene: laminin subunit alpha 1

Type of Gene: protein-coding

rs183708309 in LAMA1 gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs600695 in LAMA1 gene and Autistic Disorder PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.

rs587777677 in LAMA1 gene and Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome PMID 25105227 2014 Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.

rs7240767 in LAMA1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

PMID 22693455 2012 A variant (rs8090011) in the LAMA1 gene was associated with type 2 diabetes in lean cases (P = 8.4×10⁻⁹, OR = 1.13 [95% CI 1.09-1.18]), and this association was stronger than that in obese cases (P = 0.04, OR = 1.03 [95% CI 1.00-1.06]).

rs767889331 in LAMA1 gene and Movement Disorders PMID 25105227 2014 Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.

PMID 20048158 2010 Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formation.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 27095636 2016 Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.

PMID 23263632 2013 The laminin family.

PMID 19553699 2009 Crystal structure of the LG1-3 region of the laminin alpha2 chain.

PMID 24013853 2014 Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

PMID 15102706 2004 Compositional and structural requirements for laminin and basement membranes during mouse embryo implantation and gastrulation.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 2591971 1989 Human laminin A chain (LAMA) gene: chromosomal mapping to locus 18p11.3.

PMID 9151674 1997 The laminin alpha chains: expression, developmental transitions, and chromosomal locations of alpha1-5, identification of heterotrimeric laminins 8-11, and cloning of a novel alpha3 isoform.

PMID 23161681 2013 Update on activities at the Universal Protein Resource (UniProt) in 2013.

PMID 6795355 1981 Shapes, domain organizations and flexibility of laminin and fibronectin, two multifunctional proteins of the extracellular matrix.

PMID 10607917 1999 Restricted distribution of laminin alpha1 chain in normal adult mouse tissues.

rs767889331 in LAMA1 gene and Muscle hypotonia PMID 15102706 2004 Compositional and structural requirements for laminin and basement membranes during mouse embryo implantation and gastrulation.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 9151674 1997 The laminin alpha chains: expression, developmental transitions, and chromosomal locations of alpha1-5, identification of heterotrimeric laminins 8-11, and cloning of a novel alpha3 isoform.

PMID 25105227 2014 Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.

PMID 6795355 1981 Shapes, domain organizations and flexibility of laminin and fibronectin, two multifunctional proteins of the extracellular matrix.

PMID 27095636 2016 Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.

PMID 20048158 2010 Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formation.

PMID 23263632 2013 The laminin family.

PMID 10607917 1999 Restricted distribution of laminin alpha1 chain in normal adult mouse tissues.

PMID 2591971 1989 Human laminin A chain (LAMA) gene: chromosomal mapping to locus 18p11.3.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 23161681 2013 Update on activities at the Universal Protein Resource (UniProt) in 2013.

PMID 19553699 2009 Crystal structure of the LG1-3 region of the laminin alpha2 chain.

PMID 24013853 2014 Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

rs8084092 in LAMA1 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.