ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
Synonyms
SERCA1
Serca1
Biotype
protein coding gene
Automated Description
Enables calcium ion binding activity. Predicted to be involved in several processes, including calcium ion transport; intracellular calcium ion homeostasis; and regulation of striated muscle contraction. Predicted to act upstream of or within regulation of muscle contraction. Located in sarcoplasmic reticulum membrane. Is expressed in several structures, including diaphragm; heart; limb mesenchyme; musculature; and sciatic nerve. Human ortholog(s) of this gene implicated in Brody myopathy. Orthologous to human ATP2A1 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1).
MGI Description
PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality. Mutant neonates display respiratory distress, progressive cyanosis, and die within 30 minutes-2 hours after birth. Lung tissues and the diaphragm muscle show aberrant morphology. [provided by MGI curators]