CD57 Polyclonal Antibody, 50ul[BT-AP01968] Miscellaneous autosomal recessive

autosomal recessive

The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with other HLH proteins

and the cytokeratins

Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4)

There is a pseudogene for ALMS1 located adjacent in the same region of chromosome 2

CD57 Polyclonal Antibody, 50ul[BT-AP01968] Miscellaneous autosomal recessiveType IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. COL4A3 encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The