LETMD1
Description
The LETMD1 (LETM1 domain containing 1) is a protein-coding gene located on chromosome 12.
LETMD1 domain-containing protein 1 is a protein that in humans is encoded by the LETMD1 gene.
LETMD1 is crucial for mitochondrial integrity and function, particularly in the thermogenesis of brown adipocytes. It localizes to the nucleus within brown adipose tissue, interacting with the chromatin remodeler SMARCA4 to regulate thermogenic gene expression, including UCP1. It may also modulate phagocytosis and inflammatory responses to lipopolysaccharide in macrophages. Additionally, LETMD1 plays a role in tumorigenesis, potentially acting as a negative regulator of the p53/TP53 pathway.
LETMD1 is also known as 1110019O13Rik, HCCR, HCCR-1, HCCR-2, HCCR1, HCCR2, HCRR-2, SLC55A3.
Associated Diseases
- cancer
- glycogen storage disorder due to hepatic glycogen synthase deficiency
- familial partial lipodystrophy, Kobberling type
- AKT2-related familial partial lipodystrophy
- PPARG-related familial partial lipodystrophy
- familial partial lipodystrophy, Dunnigan type
- LIPE-related familial partial lipodystrophy
- carcinosarcoma
