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  3. LAMA1

LAMA1 (Laminin subunit alpha 1)

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Summary of LAMA1

The gene codes for a protein, laminin subunit alpha 1. Mutations are linked to Poretti-Boltshauser syndrome [R].

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The Function of LAMA1

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.

Protein names

Recommended name:

Laminin subunit alpha-1

Alternative name(s):

Laminin A chain
Laminin-1 subunit alpha
Laminin-3 subunit alpha
S-laminin subunit alpha
S-LAM alpha

LAMA1 SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS16951095 (LAMA1) ??
  2. RS3810046 (LAMA1) ??
  3. RS4398173 (LAMA1) ??
  4. RS543355 (LAMA1) ??
  5. RS597503 (LAMA1) ??
  6. RS8090011 (LAMA1) ??

Top Gene-Substance Interactions

LAMA1 Interacts with These Diseases

Disease Score

Substances That Increase LAMA1

Substances Interaction Organism Category

Substances That Decrease LAMA1

Substances Interaction Organism Category

Advanced Summary

     From NCBI Gene: Poretti-boltshauser syndromeFrom 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]

     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.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • Sp1
  • YY1
  • AREB6

Gene Pathways:

  • Pathways in cancer
  • Extracellular matrix organization
  • Small cell lung cancer
  • Toxoplasmosis
  • Amoebiasis

Molecular Function:

  • Extracellular Matrix Structural Constituent

Biological Processes:

  • Cell Adhesion
  • Cell Surface Receptor Signaling Pathway
  • Extracellular Matrix Organization
  • Regulation Of Cell Adhesion
  • Regulation Of Cell Migration
  • Regulation Of Embryonic Development
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| bal| AS27_05809| AS28_09216| bashful| CB1_000932021| D623_10029806| H920_11484| I79_015129| Lama| laminin-1| laminin-1 subunit alpha| laminin-3 subunit alpha| laminin A chain| laminin, alpha 1| Laminin subunit alpha-1| MDA_GLEAN10025272| N303_01590| N306_04861| N307_14905| N311_12223| N312_02758| N324_04335| N327_08456| N330_08004| N334_01981| N335_08162| N340_12075| PAL_GLEAN10023209| PTBHS| S-LAM alpha| S-LAM-alpha| S-laminin subunit alpha| TREES_T100002173| UY3_09394| Y1Q_029388| zmp:0000000656| lama1

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