Homeobox A1: Difference between revisions

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'''Homeobox A1''' (also known as '''HOXA1''') is a [[gene]] that in humans is encoded by the ''HOXA1'' gene. It is a member of the [[homeobox]] family of genes, which play a crucial role in [[morphogenesis]] and [[cell differentiation]] during [[embryonic development]].
 
{{Infobox gene
| name = Homeobox A1
| symbol = HOXA1
| HGNCid = 5101
| chromosome = 7
| arm = p
| band = 15.2
}}
 
'''Homeobox A1''' ('''HOXA1''') is a [[gene]] that encodes a [[transcription factor]] belonging to the [[homeobox]] gene family. These genes are critical in the regulation of [[developmental processes]] and play a significant role in [[embryogenesis]].


== Function ==
== Function ==
The ''HOXA1'' gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. More specifically, it acts on [[rhombomere]] formation and [[hindbrain]] development during embryogenesis. Mutations in this gene, or in other homeobox genes, can produce [[congenital disorder|congenital defects]] due to the role these genes have in controlling developmental processes.
The HOXA1 gene is part of the [[HOX gene]] cluster, which is involved in the patterning of the [[anterior-posterior axis]] during early [[embryonic development]]. The protein encoded by HOXA1 is a [[DNA-binding]] transcription factor that regulates the expression of other genes, influencing the development of [[neural crest cells]] and the formation of the [[hindbrain]].


== Clinical significance ==
== Clinical Significance ==
Mutations in the ''HOXA1'' gene have been associated with several disorders. These include [[Bosley-Salih-Alorainy syndrome]] and [[Hodgkin lymphoma]], among others. In the case of Bosley-Salih-Alorainy syndrome, mutations in ''HOXA1'' result in defects in the development of the brain and inner ear, leading to hearing loss and facial paralysis. In Hodgkin lymphoma, overexpression of ''HOXA1'' has been observed, suggesting a role in the development of this cancer.
Mutations in the HOXA1 gene have been associated with [[Bosley-Salih-Alorainy syndrome]], a rare genetic disorder characterized by [[congenital facial palsy]], [[sensorineural hearing loss]], and [[internal carotid artery]] anomalies. Additionally, HOXA1 has been implicated in various [[cancers]], where its dysregulation may contribute to [[tumorigenesis]].


== Research ==
== Research ==
Research into the ''HOXA1'' gene and its associated proteins continues to be a significant focus in the field of [[genetics]]. Understanding the precise mechanisms by which this gene influences development and contributes to disease can provide valuable insights into human biology and medicine.
Studies have shown that HOXA1 is involved in the [[regulation of cell proliferation]] and [[apoptosis]], making it a potential target for [[cancer therapy]]. Research is ongoing to better understand the role of HOXA1 in [[neurodevelopmental disorders]] and its potential as a [[biomarker]] for certain [[diseases]].
 
[[File:HOXA cluster.png|thumb|right|300px|The HOXA cluster on chromosome 7. ''HOXA1'' is one of the genes in this cluster.]]


== See also ==
== See Also ==
* [[Homeobox]]
* [[Homeobox]]
* [[Bosley-Salih-Alorainy syndrome]]
* [[Transcription factor]]
* [[Hodgkin lymphoma]]
* [[Embryogenesis]]
* [[Neural crest]]


== References ==
== References ==
<references />
<references/>


== External links ==
== External Links ==
* [https://www.ncbi.nlm.nih.gov/gene/3198 HOXA1] at the National Center for Biotechnology Information
* [https://www.ncbi.nlm.nih.gov/gene/3202 HOXA1 Gene - NCBI]
* [https://ghr.nlm.nih.gov/gene/HOXA1 HOXA1 - Genetics Home Reference]


{{Genes on human chromosome 7}}
{{Hox genes}}
{{Homeobox genes}}
{{Transcription factors}}
{{medicine-stub}}


[[Category:Genes on human chromosome 7]]
[[Category:Genes on human chromosome 7]]
[[Category:Transcription factors]]
[[Category:Transcription factors]]
[[Category:Homeobox genes]]
[[Category:Developmental genes and proteins]]

Latest revision as of 04:30, 29 December 2024


Homeobox A1
Symbol HOXA1
HGNC ID 5101
Alternative symbols
Entrez Gene
OMIM
RefSeq
UniProt
Chromosome 7p15.2
Locus supplementary data


Homeobox A1 (HOXA1) is a gene that encodes a transcription factor belonging to the homeobox gene family. These genes are critical in the regulation of developmental processes and play a significant role in embryogenesis.

Function[edit]

The HOXA1 gene is part of the HOX gene cluster, which is involved in the patterning of the anterior-posterior axis during early embryonic development. The protein encoded by HOXA1 is a DNA-binding transcription factor that regulates the expression of other genes, influencing the development of neural crest cells and the formation of the hindbrain.

Clinical Significance[edit]

Mutations in the HOXA1 gene have been associated with Bosley-Salih-Alorainy syndrome, a rare genetic disorder characterized by congenital facial palsy, sensorineural hearing loss, and internal carotid artery anomalies. Additionally, HOXA1 has been implicated in various cancers, where its dysregulation may contribute to tumorigenesis.

Research[edit]

Studies have shown that HOXA1 is involved in the regulation of cell proliferation and apoptosis, making it a potential target for cancer therapy. Research is ongoing to better understand the role of HOXA1 in neurodevelopmental disorders and its potential as a biomarker for certain diseases.

See Also[edit]

References[edit]

<references/>

External Links[edit]

Template:Hox genes