COL25A1 (Entrez ID: 84570)

Entrez Gene ID	84570
Official Gene Symbol	COL25A1 (GeneCards)
Full name	collagen type XXV alpha 1 chain
Location	4q25
Other ids	Vega : OTTHUMG00000150039 MIM : 610004 HGNC : HGNC:18603 Ensembl : ENSG00000188517
Other names	AMY, CLAC, CLACP, CFEOM5, CLAC-P
Summary	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]

Variants

Found 16 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
6581	84570	COL25A1	4	110030683	110030683		HiSeq X Ten
7147	84570	COL25A1	4	110155657	110155657	Cockayne syndrome	HiSeq X Ten
22929	84570	COL25A1	4	110030529	110030529	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25393	84570	COL25A1	4	109932409	109932409	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25409	84570	COL25A1	4	109932409	109932409	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25439	84570	COL25A1	4	109932409	109932409	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25455	84570	COL25A1	4	109932409	109932409	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25500	84570	COL25A1	4	109932409	109932409	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25526	84570	COL25A1	4	109932409	109932409	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25544	84570	COL25A1	4	109932409	109932409	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25565	84570	COL25A1	4	109932409	109932409	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25598	84570	COL25A1	4	109932409	109932409	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25617	84570	COL25A1	4	109932409	109932409	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25639	84570	COL25A1	4	109844036	109844036	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25694	84570	COL25A1	4	109935600	109935600	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
29140	84570	COL25A1	4	109762751	109762751	Autism Spectrum Disorders	HiSeq X Ten Single cell Sequencing Cell cloning PASM