Disease	Score

Substances	Interaction	Organism	Category

Substances	Interaction	Organism	Category

     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.

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

The following transcription factors affect gene expression:

• Sp1
• YY1
• AREB6

Molecular Function:

• Extracellular Matrix Structural Constituent

Biological Processes:

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

*synonyms