COL25A1 - collagen type XXV alpha 1 chain Gene

Homo sapiens

Also known as AMY; CLAC; CLACP; CFEOM5; CLAC-P

Gene ID: 84570 | Gene type: protein coding

About COL25A1

Cytogenetic location: 4q25 Genomic coordinates (GRCh38): 4:108,808,725-109,302,658 (from NCBI)

This gene has 8 transcripts (splice variants), 137 orthologues, 37 paralogues and is associated with 3 phenotypes. Biased expression in testis (RPKM 1.9), fat (RPKM 1.8) and 13 other tissues.

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]

COL25A1 Products(3)

mRNA	Protein	Name
NM_001256074.3	NP_001243003.1	collagen alpha-1(XXV) chain isoform 3
NM_032518.4	NP_115907.2	collagen alpha-1(XXV) chain isoform 2
NM_198721.4	NP_942014.1	collagen alpha-1(XXV) chain isoform 1

COL25A1 Protein Structure

Collagen

0
200
400
600
654 a.a.

Protein Preferred Names

Protein Names

collagen alpha-1(XXV) chain

alzheimer disease amyloid-associated protein

Related Diseases

Diseases

Alias

Fibrosis Of Extraocular Muscles, Congenital, 5

CFEOM5	Congenital Fibrosis Of The Extraocular Muscles 5
Fibrosis Of Extraocular Muscles, Congenital, Type 5

Congenital Ptosis

Congenital Blepharoptosis

Congenital Eyelid Ptosis

Antisocial Personality Disorder

Dissocial Personality Disorder	Asocial Personality
Psychopath.Personality	Psychopathic Personality
Psychopathic Personality Disorder	Sociopathic Personality

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Dystonia 27

DYT27	Primary Dystonia, Dyt27 Type
Dystonia, Type 27

Fibrosis Of Extraocular Muscles, Congenital, 1

Fibrosis Of Extraocular Muscles, Congenital, 3b	CFEOM1
Blepharoptosis With Absent Eye Movements	Congenital Fibrosis Of The Extraocular Muscles 1
Congenital Fibrosis Of Extraocular Muscles Type 1	Fibrosis
Ophthalmoplegia, Congenital	Feom1 Locus
Congenital Ophthalmoplegia	Feom1
CFEOM3B	Fibrosis, Extraocular Muscles, Congenital, Type 1
Congenital Fibrosis Of The Extraocular Muscles

Tukel Syndrome

Cfeom-U	Congenital Fibrosis Of The Extraocular Muscles 4
Fibrosis Of Extraocular Muscles, Congenital, With Ulnar Hand Anomalies	Fibrosis Of Extraocular Muscles, Congenital, 4
Cfeom4	Congenital Extraocular Muscle Fibrosis With Ulnar Hand Anomalies
Congenital Fibrosis Of The Extraocular Muscles

Deafness, X-Linked 6

DFNX6	X-Linked Deafness 6
Deafness, X-Linked, 6	Deafness, X-Linked, Type 6

Personality Disorder

Personality Disorders	Character Disorder
Personality	Specific Personality Disorders
Enduring Personality Change After Psychiatric Illness

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles	Cfeom
Feom	Congenital External Ophthalmoplegia
Congenital Fibrosis Syndrome	General Fibrosis Syndrome

Myasthenic Syndrome, Congenital, 19

Congenital Myasthenic Syndrome 19	CMS19
Myasthenic Syndrome, Congenital, Type 19

Hypertropia

Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome	Duane'S Syndrome
Duane Syndrome	Isolated Duane Retraction Syndrome
Co-Contractive Retraction Syndrome	Duane Anomaly, Isolated
Ocular Retraction Syndrome	Drs
Durs

Alcohol Dependence

Alcoholism	Alcohol Dependence, Susceptibility To
Alcohol Dependence, Protection Against	Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against
Alcoholism, Susceptibility To	Alcoholic Intoxication, Chronic
Pharyngeal Neoplasms	Chronic Alcoholism
Dipsomania	Alcohol Addiction
Ethanol Dependence	Chronic Ethanolism
Chronic Alcoholic Disease Nos	Alcoholic Disease Nos
Alcoholic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02977	COL25A1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	COL25A1	VGNC	VGNC:57403
Mus musculus	COL25A1	MGD	MGI:1924268
Bos taurus	COL25A1	VGNC	VGNC:53695
Rattus norvegicus	COL25A1	RGD	RGD:1590105
Macaca mulatta	COL25A1	VGNC	VGNC:81374

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