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Ovarian Kaleidoscope Database (OKdb)

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collagen type XVII alpha 1 chain OKDB#: 5483
 Symbols: COL17A1 Species: human
 Synonyms: ERED, BP180, BPA-2, BPAG2, LAD-1, BA16H23.2  Locus: 10q25.1 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]
General function
Comment
Cellular localization Extracellular Matrix, Plasma membrane
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization
Comment
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: Aug. 4, 2017, 12:16 p.m. by: system   email:
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last update: Aug. 4, 2017, 12:18 p.m. by: hsueh    email:



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