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FIGURE: 1 / 1
This gene encodes a member of the cytoskeletal BTB/kelch repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy.
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Protein Aliases: asterless; CC-CKR-8; CCR-8; CDw198; centrosomal protein 152kDa; Centrosomal protein of 152 kDa; Cep152; CKRL1; CMKBR8; CMKBRL2; CY6; GPRCY6; microcephaly, primary autosomal recessive 4; TER1
Gene Aliases: CEP152; KIAA0912; MCPH4; MCPH9; SCKL5
UniProt ID: (Human) O94986
Entrez Gene ID: (Human) 22995
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