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

Gene: LOC101927188

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs587777678 in LAMA1;LOC101927188 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.