LAMA1 gene

laminin subunit alpha 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Sep 2014]

From UniProt:

Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.

From NCBI Gene:

  • Poretti-boltshauser syndrome

From UniProt:

Poretti-Boltshauser syndrome (PTBHS): An autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis atrophy, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities including strabismus, ocular apraxia, nystagmus. Affected individuals have ataxia, delayed motor development, language impairment, and intellectual disability with variable severity. [MIM:615960]

Cytogenetic Location: 18p11.3, which is the short (p) arm of chromosome 18 at position 11.3

Molecular Location: base pairs 6,941,744 to 7,117,814 on chromosome 18 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 18p11.3, which is the short (p) arm of chromosome 18 at position 11.3
  • LAMA
  • PTBHS
  • S-LAM-alpha