COL7A1
| Type VII collagen α1 chain | ||
|---|---|---|
| Mass / length primary structure | 295 kilodaltons / 2,944 amino acids (isoform 1)
292 kilodaltons / 2,012 amino acids (isoform 2) |
|
| Isoforms | 2 | |
| Identifier | ||
| Gene name (s) | COL7A1; EBD1, EBR1, EBDCT, NDNC8 | |
| External IDs | ||
| Orthologue | ||
| human | House mouse | |
| Entrez | 1294 | 12836 |
| Ensemble | ENSG00000114270 | ENSMUSG00000025650 |
| UniProt | Q02388 | Q63870 |
| Refseq (mRNA) | NM_000094 | NM_007738 |
| Refseq (protein) | NP_000085 | NP_031764 |
| Gene locus | Chr 3: 48.56 - 48.6 Mb | Chr 9: 108.95 - 108.98 Mb |
| PubMed search | 1294 |
12836
|
Collagen type VII, alpha 1 is a protein that the gene COL7A1 is encoded. Collagen is an important structural protein in humans and is composed of three α1 chains. Collagen type VII, alpha 1 corresponds to these α1 chains .
Type VII collagen occurs in the skin where it forms short anchor fibrils to connect the epidermis to the dermis . It is also found under the multilayered, uncornified epithelium of the mucous membranes, cornea and conjunctiva . Mutations in the COL7A1 gene are associated with epidermolysis bullosa dystrophica - a disease in which the top layer of skin becomes detached with blistering.
genetics
The coding COL7A1 gene is found on the short arm of the third chromosome in humans . Despite its 118 exons , it is a relatively tightly packed gene; only a single intron is more than 1 kb in length. It is 31,132 base pairs in size.
Individual evidence
- ↑ collagen type VII alpha 1 (human) .
- ↑ Renate Lüllmann-Rauch: Pocket textbook histology , 5th edition, Stuttgart, 2015, Thieme. P. 132.
- ↑ COL7A1. In: Online Mendelian Inheritance in Man . (English).