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CD57 Polyclonal Antibody, 20ul[BT-AP02069] Cell Culture & Maintenance Alternative splicing of this gene

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CD57 Polyclonal Antibody, 20ul[BT-AP02069] Cell Culture & Maintenance Alternative splicing of this geneCOL17A1 (collagen type XVII alpha 1 chain) 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 COL17A1 are associated with both generalized atrophic benign and junctional epidermolysis

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Description

Alternative splicing of this gene generates 2 transcript variants

KLHL36 (Kelch Like Family Member 36) is a Protein Coding gene

This gene is part of a cluster of similar genes on chromosome 3

Fusion of ATF1 and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in angiomatoid fibrous histiocytoma and clear cell sarcoma

The read-through codon occurs primarily in individuals of African descent and carriers have endotoxin hypo-responsiveness and an increased susceptibility to severe sepsis

CD57 Polyclonal Antibody, 20ul[BT-AP02069] Cell Culture & Maintenance Alternative splicing of this geneCOL17A1 (collagen type XVII alpha 1 chain) 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 COL17A1 are associated with both generalized atrophic benign and junctional epidermolysis

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