Treacle Polyclonal Antibody, 50ul Adeno-associated Virus Packaging This isozyme is predominantly expressed

This isozyme is predominantly expressed in the gastrointestinal tract (also in liver in human)| is localized in the cytoplasm| and whose preferred substrate is hydrogen peroxide

Read-through transcription exists between this gene and the upstream KLRC4 (killer cell lectin-like receptor subfamily C

Mutations in this gene have been associated with osteopoikilosis| Buschke-Ollendorff syndrome and melorheostosis

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Treacle Polyclonal Antibody, 50ul Adeno-associated Virus Packaging This isozyme is predominantly expressedTCOF1 (treacle ribosome biogenesis factor 1) encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in TCOF1 have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for TCOF1.