COL25A1

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]

Description

Collagen type XXV alpha 1 chain

Tissue specificity

Tissue enhanced (brain, retina)

Subcell location

Endoplasmic reticulum, Vesicles, Cytosol

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins

Chromosome

4 (108808725 - 109302752)

Ensembl ID

ENSG00000188517  (ver. 103.38)

Orthologs

Mouse Col25a1: ENSMUSG00000058897

UniProt

Q9BXS0

neXtProt

NX_Q9BXS0

Human splice variants
Mouse splice variants

Protein structure