COL6A6 - collagen type VI alpha 6 chain Gene

Homo sapiens

Gene ID: 131873 | Gene type: protein coding

About COL6A6

Cytogenetic location: 3q22.1 Genomic coordinates (GRCh38): 3:130,516,720-130,677,042 (from NCBI)

This gene has 3 transcripts (splice variants), 280 orthologues and 12 paralogues. Biased expression in lung (RPKM 3.3), fat (RPKM 0.9) and 7 other tissues.

Summary

This gene encodes a large protein that contains multiple von Willebrand factor domains and forms a component of the basal lamina of epithelial cells. This protein may regulate epithelial cell-fibronectin interactions. Variation in this gene may be implicated in skin diseases. [provided by RefSeq, May 2017]

COL6A6 Products(1)

mRNA	Protein	Name
NM_001102608.3	NP_001096078.1	collagen alpha-6(VI) chain precursor

COL6A6 Protein Structure

VWA

Collagen

VWA

0
400
800
1200
1600
2000
2263 a.a.

Protein Preferred Names

Protein Names

collagen alpha-6(VI) chain

collagen, type VI, alpha 6

Recombinant COL6A6 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7987	COL6A6 Protein, Human (FITC)	A6NMZ7	≥95%

Related Diseases

Diseases

Alias

Nail Disorder, Nonsyndromic Congenital, 8

Nonsyndromic Congenital Nail Disorder 8	Toenail Dystrophy, Isolated
NDNC8	Isolated Toenail Dystrophy
Nail Disorder, Non-Syndromic Congenital, 8	Isolated Toenail Dystrophy Without Skin Fragility
Nail Disorder, Nonsyndromic Congenital, Type 8

Ullrich Congenital Muscular Dystrophy 1

Ullrich Congenital Muscular Dystrophy	Ullrich Disease
Ucmd	Ullrich Scleroatonic Muscular Dystrophy
Scleroatonic Muscular Dystrophy	UCMD1
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22	Lgmdr22
Muscular Dystrophy, Scleroatonic	Late Onset Scleroatonic Familial Myopathy
Congenital Muscular Dystrophy, Ullrich Type

Bethlem Myopathy 1

Bethlem Myopathy	Myopathy, Benign Congenital, With Contractures
Muscular Dystrophy, Benign Congenital	BTHLM1
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5	Lgmdd5
Benign Congenital Muscular Dystrophy	Benign Autosomal Dominant Myopathy
Myopathy, Bethlem	Myopathy, Bethlem, Type 1

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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-RS02996	COL6A6 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	COL6A6	MGD	MGI:2444259
Felis catus	COL6A6	VGNC	VGNC:61069
Bos taurus	COL6A6	VGNC	VGNC:56214
Macaca mulatta	COL6A6	VGNC	VGNC:110374
Rattus norvegicus	COL6A6	RGD	RGD:1309172
Canis familiaris	COL6A6	VGNC	VGNC:49850

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