COL8A1 - collagen type VIII alpha 1 chain Gene

Homo sapiens

Also known as C3orf7

Gene ID: 1295 | Gene type: protein coding

About COL8A1

Cytogenetic location: 3q12.1 Genomic coordinates (GRCh38): 3:99,638,594-99,799,217 (from NCBI)

This gene has 9 transcripts (splice variants), 239 orthologues and 23 paralogues. Biased expression in urinary bladder (RPKM 16.8), lung (RPKM 16.6) and 13 other tissues.

Summary

This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]

COL8A1 Products(2)

mRNA	Protein	Name
NM_001850.5	NP_001841.2	collagen alpha-1(VIII) chain precursor
NM_020351.4	NP_065084.2	collagen alpha-1(VIII) chain precursor

COL8A1 Protein Structure

Collagen

C1q

0
200
400
600
744 a.a.

Protein Preferred Names

Protein Names

collagen alpha-1(VIII) chain

cell proliferation-inducing protein 41

Recombinant COL8A1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70018	Collagen alpha-1(VIII) chain/COL8A1 Protein, Human (HEK293, His)	P27658 (G28-M744)	≥95%

Related Diseases

Diseases

Alias

Corneal Endothelial Dystrophy

Congenital Hereditary Endothelial Dystrophy Of Cornea	Chandler Syndrome
CHED	Chandler'S Syndrome
Endothelial Corneal Dystrophy	Ched2
Maumenee Corneal Dystrophy	Corneal Dystrophy, Congenital Hereditary Endothelial
Dystrophy Of Corneal Endothelium	Corneal Endothelial Dystrophy 2
Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly	Ched2, Formerly
Corneal Endothelial Dystrophy, Autosomal Recessive	Endothelial Dystrophy
Posterior Membrane Corneal Dystrophy	Corneal Endothelial Dystrophy Type 2
Congenital Hereditary Endothelial Dystrophy Of The Cornea	Congenital Hereditary Endothelial Dystrophy Type Ii
Autosomal Recessive Ched	Autosomal Recessive Congenital Hereditary Endothelial Dystrophy
Chedii	Congenital Hereditary Endothelial Dystrophy Type 2
Infantile Hereditary Endothelial Dystrophy	Congenital Hereditary Endothelial Corneal Dystrophy
Corneal Endothelial Dystrophy 2, Autosomal Recessive	Iridocorneal Endothelial Syndrome
Dystrophy, Corneal, Endothelial	Corneal Endothelial Dystrophy 1, Autosomal Dominant

Corneal Dystrophy

Macular Degeneration, Age-Related, 1

Macular Degeneration	Age-Related Macular Degeneration
Macular Degeneration, Age-Related	Age Related Macular Degeneration
Age Related Macular Degeneration 1	ARMD1
Senile Macular Degeneration	Maculopathy, Age-Related, 1
Macular Degeneration, Age-Related, Reduced Risk Of	Age Related Maculopathy 1
Age Related Maculopathies	Age Related Maculopathy
Senile Macular Retinal Degeneration	Macular Degeneration Of Retina
Age-Related Maculopathy	Amd
Armd	Age-Related Maculopathy, Susceptibility To
Maculopathy Age-Related	Macular Degeneration, Age-Related, 1, Susceptibility To
Maculopathy, Age-Related	Macular Degeneration, Age-Related, Type 1
Macular Degeneration, Age-Related, 2

Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy	Ppcd
Maumenee Corneal Dystrophy	Posterior Polymorphous Corneal Dystrophy 1
PPCD1	Corneal Dystrophy, Hereditary Polymorphous Posterior
Corneal Endothelial Dystrophy 1, Autosomal Dominant	Schlichting Dystrophy
Ched1	Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly
Ched1, Formerly	Hereditary Polymorphus Posterior Corneal Dystrophy
Posterior Polymorphous Dystrophy	Hereditary Polymorphous Posterior Corneal Dystrophy
Dystrophy, Corneal, Posterior Polymorphous	Dystrophy, Corneal, Posterior Polymorphous, Type 1
Polymorphous Corneal Dystrophy	Corneal Endothelial Dystrophy 2

Keratoconus

Kc	Conical Cornea
Noninflammatory Corneal Thining	Bulging Cornea
Cornea Conical	Acquired Conus Of Cornea

Sorsby Fundus Dystrophy

SFD	Fundus Dystrophy, Pseudoinflammatory, Of Sorsby
Sorsby'S Fundus Dystrophy	Macular Dystrophy, Hemorrhagic
Hemorrhagic Macular Dystrophy	Pseudoinflammatory Fundus Dystrophy Of Sorsby
Sorsby'S Pseudoinflammatory Macular Dystrophy	Sorsby Pseudoinflammatory Fundus Dystrophy
Dystrophy, Fundus, Sorsby

Degenerative Myopia

Pathological Myopia	Myopia, Degenerative
Degenerative Progressive High Myopia	Progressive High Myopia
Progressive High Myopia

Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy	Fuchs Endothelial Dystrophy
Fuchs Dystrophy	Fced
Fuchs' Corneal Dystrophy	Fuchs' Endothelial Corneal Dystrophy
Fuchs Atrophy	Fuchs Corneal Dystrophy
Endoepithelial Corneal Dystrophy	Fecd
Late Hereditary Endothelial Dystrophy	Corneal Dystrophy, Fuchs Endothelial
Dystrophy, Corneal, Fuchs Endothelial	Corneal Dystrophy, Fuchs' Endothelial, 1

Adamantinous Craniopharyngioma

Adamantinous Rathke'S Pouch Tumor	Craniopharyngioma, Adamantinomatous
Adamantinomatous Craniopharyngioma

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-RS02998	COL8A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	COL8A1	VGNC	VGNC:61070
Bos taurus	COL8A1	VGNC	VGNC:27574
Rattus norvegicus	COL8A1	RGD	RGD:1309361
Macaca mulatta	COL8A1	VGNC	VGNC:71304
Canis familiaris	COL8A1	VGNC	VGNC:39484
Mus musculus	COL8A1	MGD	MGI:88463
Others	COL8A1	NCBI

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