Description
Product Characteristics:
The homeobox DNA-binding domain is a 60 amino acid motif that is conserved among many species and functions to bind DNA via a helix-turn-helix structure, thereby playing a role in transcriptional regulation and the control of gene expression. HMX2 (H6 family homeobox 2), also known as H6L or Nkx5-2, is a 273 amino acid nuclear protein that belongs to the HMX homeobox family and contains one homeobox DNA-binding domain. HMX2 functions as a transcription factor that assists in specification of neuronal cell types and is essential for proper development of hypothalamus and inner ear. Hemizygous deletions of the gene encoding HMX2 are thought to lead to vestibular dysfunction, inner ear malformations and congenital sensorineural hearing loss.
Subcellular location: Nucleus
Synonyms: H6 family homeo box 2, H6 family homeobox 2, H6 homeo box 2, H6L, HMX 2, HMX2, HMX2_HUMAN, Homeo box H6 family 2, Homeo box protein H6 family member 2, Homeobox H6 family 2, Homeobox protein H6 family member 2, Homeobox protein HMX2, Nkx5 2.
Target Information: The protein encoded by this gene is a member of the NKL homeobox family of transcription factors. Members in this family are of ancient origin and play an important role in organ development during embryogenesis. A related mouse protein plays a role in patterning of inner ear structures. In humans, variations in a region containing this gene have been associated with inner ear malformations, vestibular dysfunction, and hearing loss. [provided by RefSeq, Aug 2012]