CCDC102B Polyclonal Antibody, 50ul ssDNA Synthesis Mutations in PEX1 have been

Mutations in PEX1 have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy

beta and gamma

This gene encodes a nucleolar protein that contains six RNA-binding motifs

Additional variants have been identified but lack full length transcripts

CCDC102B Polyclonal Antibody, 50ul ssDNA Synthesis Mutations in PEX1 have beenCCDC102B (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,