HIG1 hypoxia inducible domain family, member 1A pseudogene (HIGD1AP)

HIG1 hypoxia inducible domain family member 1A pseudogene (ENSG00000271455) is a non-coding sequence in the human genome that resembles the protein-coding gene HIGD1A but contains mutations and disruptions (such as frameshifts, premature stop codons, or deletions) that prevent it from encoding a functional protein[4][1][8]. Pseudogenes such as this may arise via duplication or retrotransposition of the parental gene, but typically do not produce proteins or act as therapeutic targets. Though some pseudogenes can regulate their parental genes through RNA-mediated mechanisms or be involved in epigenetic regulation, there is no evidence that ENSG00000271455 has such functionality. The functional parental gene, HIGD1A, is involved in mitochondrial homeostasis and the cellular response to hypoxia[3], but these activities do not apply to the pseudogene variant addressed here.

Other names

HIGD1APHIGD1AP1HIG1 hypoxia inducible domain family member 1A pseudogene 1