disease:Defects in LPIN1 are a cause of autosomal recessive acute recurrent myoglobinuria [MIM:268200]; also known as acute recurrent rhabdomyolysis. Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years.,function:Is involved in adipocyte differentiation.,miscellaneous:May represents a candidate gene for human lipodysytropy syndromes.,similarity:Belongs to the lipin family.,
Cytoplasm, cytosol . Endoplasmic reticulum membrane . Nucleus membrane . Translocates from the cytosol to the endoplasmic reticulum following acetylation by KAT5. .
Specifically expressed in skeletal muscle. Also abundant in adipose tissue. Lower levels in some portions of the digestive tract.
下载说明书
