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Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development.
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One sequence alteration, heterozygous c.114C->T (conservative change without alteration of amino acid) in exon 1 of HMX3 (zeige PELP1 Proteine), was detected in 2 of 15 patients with superior semicircular dehiscence syndrome.
propose that hemizygous deletions of HMX2 (zeige HMX2 Proteine) and HMX3 (zeige PELP1 Proteine) are responsible for inner ear malformations, vestibular dysfunction, and congenital sensorineural hearing loss
a role of stage-specific inhibitor of Xanf-1 in the anterior neural plate during the Xenopus development
hmx3 acts as cell autonomous factors required redundantly for cell fate specification and differentiation during inner ear and lateral line development
Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development. Binds to the 5'-CAAGTG-3' core sequence. Controls semicircular canal formation in the inner ear. Also required for hypothalamic/pituitary axis of the CNS (By similarity).
H6 family homeobox 3
, homeobox (H6 family) 3
, Homeobox protein HMX3
, homeo box (H6 family) 3
, homeobox protein H6 family member 3
, homeobox protein HMX3
, homeobox protein Nkx-5.1
, H6 homeo box 3
, NK homeobox
, Nkx-5.1 homeodomain protein