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gene: BHLHE22

id27319
symbolBHLHE22
organismHomo sapiens
full namebasic helix-loop-helix family member e22
summaryThis gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. A similar protein in mouse is required for the development of the dorsal cochlear nuclei, and is thought to play a role in in the differentiation of neurons involved in sensory input. The mouse protein also functions in retinogenesis. [provided by RefSeq, Oct 2016]
variant-disease

NM_152414.5(BHLHE22):c.661_666AGCGGC[3] (p.219_220SG[4]) AND not specified

GRCh38/hg38 8q12.3(chr8:64079639-64886541)x1 AND See cases

GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)x1 AND See cases

GRCh38/hg38 8q12.2-13.1(chr8:60816393-65117062)x1 AND See cases

GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3 AND See cases

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