FUNDC1
Description
The FUNDC1 (FUN14 domain containing 1) is a protein-coding gene located on chromosome X.
FUN14 domain containing 1 is a protein that in humans is encoded by the FUNDC1 gene.
FUNDC1 is a protein that is involved in the formation of mitochondria-associated endoplasmic reticulum membranes (MAMs), which in turn mediates angiogenesis and neoangiogenesis. It also plays a role in hypoxia-induced mitophagy, a process that removes damaged mitochondria. FUNDC1 recruits DRP1 at ER-mitochondria contact sites, leading to DRP1 oligomerization and GTPase activity, which facilitates mitochondrial fission during hypoxia. Additionally, FUNDC1 interacts with glutathione peroxidase/GPX4 to facilitate its recruitment into mitochondria through the TOM/TIM complex, where it is degraded by mitophagy.
FUNDC1 is also known as -.
Associated Diseases
- cancer
- breast cancer
- Pallister-Hall syndrome
- melorheostosis
- pyknoachondrogenesis
- dacryocystitis-osteopoikilosis syndrome
- 12q14 microdeletion syndrome
- autosomal recessive hypophosphatemic rickets
- osteomesopyknosis
- gnathodiaphyseal dysplasia
- dentin dysplasia-sclerotic bones syndrome
- osteosclerosis-ichthyosis-premature ovarian failure syndrome
