Recombinant Human PR domain zinc finger protein 12 (PRDM12)

Uniprot Id

Q9H4Q4

Target Species

Human

Target Name

PRDM12

Target Full Name

PR domain zinc finger protein 12

Target Function

Involved in the positive regulation of histone H3-K9 dimethylation.

Target Involvement

Neuropathy, hereditary sensory and autonomic, 8 (HSAN8)

Target Subcellular Location

Nucleus.

Target Protein Families

Class V-like SAM-binding methyltransferase superfamily

Target Tissue Specificity

Not found in adult tissues except in dorsal root ganglia.

Target Synonyms

PRDM12; PFM9PR domain zinc finger protein 12; EC 2.1.1.-; PR domain-containing protein 12

Target Background

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 leukaemia.