PRDM12
Function
Involved in the positive regulation of histone H3-K9 dimethylation.
Involvement in disease
Neuropathy, hereditary sensory and autonomic, 8
HSAN8
A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN8 patients manifest congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Some patients may also have decreased sweating and tear production.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the class V-like SAM-binding methyltransferase superfamily.
Tissue Specificity
Not found in adult tissues except in dorsal root ganglia.
Cellular localization
- Nucleus
Alternative names
PFM9, PRDM12, PR domain zinc finger protein 12, PR domain-containing protein 12