COL25A1 gene

collagen type XXV alpha 1 chain

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

From NCBI Gene:

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. [provided by RefSeq, Dec 2011]

From UniProt:

Inhibits fibrillization of beta amyloid peptide during the elongation phase. Has also been shown to assemble amyloid fibrils into protease-resistant aggregates. Binds heparin.

From NCBI Gene:

  • Fibrosis of extraocular muscles, congenital, 5

From UniProt:

Fibrosis of extraocular muscles, congenital, 5 (CFEOM5): An ocular motility disorder characterized by congenital dysinnervation of various cranial nerves to ocular muscles. Clinical features are ophthalmoplegia, anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. [MIM:616219]

Cytogenetic Location: 4q25, which is the long (q) arm of chromosome 4 at position 25

Molecular Location: base pairs 108,808,725 to 109,302,737 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q25, which is the long (q) arm of chromosome 4 at position 25
  • AMY
  • CFEOM5
  • CLAC
  • CLAC-P
  • CLACP