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DEE47

Chr 3AD

fibroblast growth factor 12

Also known as: DEE47, EIEE47, FGF12B, FHF1

NCBI Gene: 2257 OMIM: 617166

This gene encodes a member of the fibroblast growth factor family that localizes to the nucleus rather than being secreted, though its specific cellular function remains undetermined. Mutations cause developmental and epileptic encephalopathy 47, a condition involving both neurodevelopmental impairment and seizures with early childhood onset. The disorder follows autosomal dominant inheritance.

OMIM ResearchSummary from RefSeq, OMIM

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. [provided by RefSeq, Dec 2019]

OMIM ResearchGenerating clinical summary…