HMX2
| Homeobox protein HMX2 | |||||||
|---|---|---|---|---|---|---|---|
| Script error: No such module "InfoboxImage". | |||||||
| Identifiers | |||||||
| Symbol | ? | ||||||
| NCBI gene | 3161 | ||||||
| HGNC | 5010 | ||||||
| OMIM | 142992 | ||||||
| RefSeq | NM_006366 | ||||||
| UniProt | Q9UBX3 | ||||||
| |||||||
HMX2 (Homeobox, Msh-like 2) is a homeobox gene that encodes a transcription factor involved in the development of the nervous system and sensory organs. It is part of the H6 family of homeobox genes, which are characterized by a conserved DNA-binding domain known as the homeodomain.
Function[edit | edit source]
HMX2 plays a crucial role in the development of the inner ear, eye, and central nervous system. It is involved in the specification of neuronal cell types and the formation of sensory structures. The protein encoded by HMX2 binds to specific DNA sequences, regulating the expression of target genes that are essential for developmental processes.
Gene Structure[edit | edit source]
The HMX2 gene is located on chromosome 10 in humans. It consists of multiple exons and introns, with the coding sequence spanning several kilobases. The gene is transcribed into mRNA, which is then translated into the HMX2 protein.
Expression[edit | edit source]
HMX2 is expressed in various tissues during embryonic development, particularly in the otic vesicle, which gives rise to the inner ear, and in the developing retina. Its expression is tightly regulated and is crucial for the proper formation of sensory organs.
Clinical Significance[edit | edit source]
Mutations in the HMX2 gene have been associated with developmental disorders affecting the ear and eye. Abnormalities in HMX2 expression can lead to congenital hearing loss and eye malformations. Research is ongoing to better understand the role of HMX2 in these conditions and to explore potential therapeutic interventions.
Research[edit | edit source]
Studies on HMX2 involve understanding its role in developmental biology and its potential implications in regenerative medicine. Animal models, such as mouse and zebrafish, are commonly used to study the function of HMX2 and its interactions with other genes during development.
Also see[edit | edit source]
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Contributors: Prab R. Tumpati, MD
