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COL25A1 encodes a brain-specific membrane associated collagen. Additionally we are shipping COL25A1 Proteins (8) and many more products for this protein.
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We highlight phenotypes of the 4 affected children from the 2 reported families: isolated congenital ptosis (one unilateral, one bilateral) and Duane syndrome (one unilateral, one bilateral) with synergistic divergence.
We identified COL25A1 mutations as a cause of autosomal-recessive congenital cranial dysinnervation disorder.
COL25A1 methylation correlates with severity of cervical intraepithelial neoplasia
The COL25A1 single nucleotide polymorphism rs13134663 was significantly associated with antisocial personality disorder, especially in subjects with comorbid substance dependence.
The next best locus for gene x gender interactions for age at onset was in COL25A1 gene at 4q25
provides genetic evidence of association between COL25A1 and risk for Alzheimer's disease
COL25A1 leads to Alzheimer's disease-like pathology in vivo
CLAC displays features characteristic of a collagen protein, ie. it forms a partly protease-resistant triple-helical structure, exhibits an intermediate affinity for heparin, and is glycosylated; binding domain between CLAC and amyloid beta-peptide
CLACbinds to amyloid beta peptides through the positively charged amino acid cluster within the collagenous domain 1 and inhibits formation of amyloid fibrils
Results show that collagenous Alzheimer amyloid plaque component (CLAC) assembles amyloid-beta fibrils into fibril bundles that have an increased resistance to proteases.
suggest that CLAC becomes involved at an intermediate stage in the pathogenesis of Alzheimer's disease by binding to Abeta fibrils, including fibrils formed from peptides with truncated N- or C-termini, and thereby slows their growth
CLAC-P/collagen XXV is a novel essential factor that regulates the initial phase of intramuscular motor innervation, which is required for subsequent target-dependent motoneuron survival and neuromuscular junction formation during development.
This gene encodes a brain-specific membrane associated collagen. A product of proteolytic processing of the encoded protein, CLAC (collagenous Alzheimer amyloid plaque component), binds to amyloid beta-peptides found in Alzheimer amyloid plaques but CLAC inhibits rather than facilitates amyloid fibril elongation (PMID: 16300410). A study of over-expression of this collagen in mice, however, found changes in pathology and behavior suggesting that the encoded protein may promote amyloid plaque formation (PMID: 19548013). Multiple transcript variants encoding different isoforms have been found for this gene.
collagen, type XXV, alpha 1
, collagen, type XXV, alpha 1-like
, collagen alpha-1(XXV) chain-like
, alzheimer disease amyloid-associated protein
, collagen alpha-1(XXV) chain
, collagen-like Alzheimer amyloid plaque component
, collagenous Alzheimer amyloid plaque component
, procollagen, type XXV, alpha 1