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Antibody detects endogenous levels of total PRDM12.
This gene encodes a transcriptional regulator of sensory neuronal specification that plays a critical role in pain perception. The encoded protein contains an N-terminal PRDI-BF1 and RIZ homology (PR) domain, a SET domain, and three C-terminal C2H2 zinc finger DNA-binding domains. Naturally occurring mutations in this gene are associated with congenital insensitivity to pain (CIP), and hereditary sensory and autonomic neuropathies (HSAN's) affecting peripheral sensory and autonomic neurons. Deregulation of this gene is associated with solid cancers and hematological malignancies including chronic myeloid leukemia.
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蛋白别名: PR domain containing 12; PR domain zinc finger protein 12; PR domain-containing protein 12; PR-domain containing protein 12; PR-domain zinc finger protein 12; RP11-57C19.7
基因别名: Gm998; HSAN8; PFM9; PRDM12
UniProt ID: (Human) Q9H4Q4, (Mouse) A2AJ77
Entrez Gene ID: (Human) 59335, (Mouse) 381359