GENETIC ENCYCLOPEDIA
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gene: POU3F4

id5456
symbolPOU3F4
organismHomo sapiens
full namePOU class 3 homeobox 4
summaryThis gene encodes a member of the POU-III class of neural transcription factors. This family member plays a role in inner ear development. The protein is thought to be involved in the mediation of epigenetic signals which induce striatal neuron-precursor differentiation. Mutations in this gene are associated with X chromosome-linked nonsyndromic mixed deafness. [provided by RefSeq, Dec 2012]
variant-disease

NM_000307.5(POU3F4):c.648del (p.Leu217fs) AND Deafness, X-linked 2

NM_000307.5(POU3F4):c.967C>G (p.Arg323Gly) AND Deafness, X-linked 2

NM_000307.5(POU3F4):c.341G>A (p.Trp114Ter) AND Rare genetic deafness

NM_000307.5(POU3F4):c.708= (p.Glu236=) AND not specified

NM_000307.5(POU3F4):c.950dup (p.Leu317fs) AND Deafness, X-linked 2

... 193 more


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