HIF3A

Description

The HIF3A (hypoxia inducible factor 3 subunit alpha) is a protein-coding gene located on chromosome 19.

HIF3A is a gene that codes for a protein called hypoxia-inducible factor 3-alpha (HIF3A), which is a crucial component of the body's response to low oxygen levels (hypoxia). This protein is part of a family of transcription factors that regulate genes involved in adapting to hypoxia. HIF3A, however, lacks the transactivation domain found in other members of this family, suggesting it plays a role in suppressing the expression of hypoxia-inducible genes. There are at least three different isoforms of HIF3A, each with unique functions. In rats, HIF3A has been shown to negatively regulate adaptation to hypoxia, as its inhibition leads to increased physical endurance. Interestingly, DNA methylation in the HIF3A gene is associated with body mass index (BMI) and adiposity, suggesting its potential involvement in metabolic processes.

HIF3A acts as a transcriptional regulator in response to low oxygen levels. It regulates the expression of genes involved in adapting to hypoxia (PubMed:11573933, PubMed:16126907, PubMed:19694616, PubMed:20416395, PubMed:21069422). It inhibits angiogenesis in hypoxic corneal cells and contributes to the development of the cardiovascular and respiratory systems. HIF3A may also play a role in programmed cell death (apoptosis) (By similarity).

HIF3A is also known as HIF-3A, HIF3-alpha-1, IPAS, MOP7, PASD7, bHLHe17.

Associated Diseases

WES Whole Exome Sequencing