COL8A1 - collagen type VIII alpha 1 chain Gene

中文名称：VIII 型胶原蛋白 alpha 1 链

种属: Homo sapiens

同用名: C3orf7

基因 ID: 1295 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 VIII 型胶原蛋白的两条 α 链之一。该基因产物是一种短链胶原蛋白，是角膜内皮基底膜的主要成分。 VIII 型胶原纤维可以是同源三聚体或异源三聚体。已经观察到编码相同蛋白质的可变剪接转录物变体。[RefSeq 提供，2011 年 12 月]

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 基因产物(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 蛋白结构

Collagen

C1q

0
200
400
600
744 a.a.

蛋白主名

其他名称

collagen alpha-1(VIII) chain

cell proliferation-inducing protein 41

重组 COL8A1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P70018	Collagen alpha-1(VIII) chain/COL8A1 Protein, Human (HEK293, His)	P27658 (G28-M744)	≥95%

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS02998	COL8A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

COL8A1 - collagen type VIII alpha 1 chain Gene

关于 COL8A1

功能概要

COL8A1 基因产物(2)

COL8A1 蛋白结构

重组 COL8A1 蛋白

关联疾病

直系同源

热门区域

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COL8A1 - collagen type VIII alpha 1 chain Gene

关于 COL8A1

功能概要

COL8A1 基因产物(2)

COL8A1 蛋白结构

重组 COL8A1 蛋白

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z