COL7A1 (collagen, type VII, alpha 1)

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Keyword

Gene: COL7A1 (collagen, type VII, alpha 1) Homo sapiens

Symbol:

COL7A1

Name:

collagen, type VII, alpha 1

Description:

This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

collagen alpha-1(VII) chain; collagen VII, alpha-1 polypeptide; EBD1; EBDCT; EBR1; LC collagen; long chain collagen; long-chain collagen; OTTHUMP00000164822

Orthologs:

Mus musculus : Col7a1 (collagen, type VII, alpha 1) MGI
Rattus norvegicus : Col7a1 (collagen, type VII, alpha 1)

Latest Assembly:

Human Genome Assembly GRCh37

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	3	48,532,717 - 48,563,807	-	NCBI
Human Genome Assembly HuRef	3	48,659,828 - 48,690,843	-	NCBI
Human Genome Assembly GRCh37	3	48,601,506 - 48,632,593	-	NCBI
Human Genome Assembly Build 36	3	48,576,510 - 48,607,597	-	NCBI
Human Cytogenetic Map	3	p21.1		NCBI
Human Genome Assembly	3	48,576,509 - 48,607,689		NCBI