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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: asterless; CC-CKR-8; CCR-8; centrosomal protein 152; centrosomal protein 152kDa; Centrosomal protein of 152 kDa; Cep152; CKRL1; CMKBR8; CY6; microcephaly, primary autosomal recessive 4
基因别名: AI851464; CEP152; KIAA0912; MCPH4; MCPH9; mKIAA0912; RGD1305348; SCKL5
UniProt ID: (Human) O94986, (Mouse) A2AUM9
Entrez Gene ID: (Human) 22995, (Mouse) 99100, (Rat) 311391