HIG1 domain family member 1A, mitochondrial (HIGD1A)

HIG1 domain family member 1A, mitochondrial (HIGD1A), is a small (~10.4 kDa) mitochondrial inner membrane protein in the hypoxia inducible gene domain family, encoded by the *HIGD1A* gene.[1][3] Its expression is upregulated by hypoxic stress, and HIGD1A is involved in the preservation of mitochondrial function and cellular survival during conditions such as oxygen or glucose deprivation.[1][2][3] Biologically, it inhibits apoptosis by blocking cytochrome c release and caspase activation, regulates OPA1-mediated mitochondrial fusion, and acts as a negative regulator of mitochondrial γ-secretase activity, helping reduce amyloid-beta accumulation and mitochondrial dysfunction.[1][3][5] Clinically, HIGD1A expression is elevated in hypoxic/inflammatory states and is implicated in cardiovascular diseases, neurodegeneration, and various cancers, where it may play dual roles in either promoting cell survival/dormancy or cell proliferation depending on tissue and context.[1][3][5] It is not currently known to be a direct drug target and no small-molecule modulators are clinically established. Nuclear localization of HIGD1A serves as a biomarker of metabolic stress in several pathologies.[5]

Other names

HIG1RCF1aHIMP1-ahypoxia inducible gene 1 proteinRCF1 homolog AHSPC010DKFZP564K247RCF1AHIGD1A