CCDC102B Polyclonal Antibody, 100ul Plasmid Preparation Mutations in SGCA result in

Mutations in SGCA result in type 2D autosomal recessive limb-girdle muscular dystrophy

This gene encodes a poly(A) binding protein

Inhibits the DNA-binding activity of C/EBP and LAP by forming heterodimers that cannot bind DNA

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CCDC102B Polyclonal Antibody, 100ul Plasmid Preparation Mutations in SGCA result inCCDC102B (coiled coil domain containing 102B), also known as AN, ACY1L or HsT1731, is a 513 amino acid protein that exists as three alternatively spliced isoforms. Widely expressed and found in multiple CNV (copy number variant) regions, CCDC102B contains the deletion breakpoint of a maternally inherited deletion, which is 2. 7 Mb in size, and maps to human chromosome 18q22. 1. CCDC102B may play a role in the pathogenesis of diaphragmatic hernia,