Neha Patil

ATP2C1

Updated on
Share on FacebookTweet on TwitterShare on LinkedIn
Species  Human
Entrez  27032
Human  Mouse
Ensembl  ENSG00000017260
ATP2C1
Aliases  ATP2C1, ATP2C1A, BCPM, HHD, PMR1, SPCA1, hSPCA1, ATPase secretory pathway Ca2+ transporting 1
External IDs  MGI: 1889008 HomoloGene: 56672 GeneCards: ATP2C1

Calcium-transporting ATPase type 2C member 1 is an enzyme that in humans is encoded by the ATP2C1 gene.

This gene encodes one of the SPCA proteins, a Ca2+ ion-transporting P-type ATPase. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.

References

ATP2C1 Wikipedia


Similar Topics
Khnata Bennouna
Marcus Marshall
Hans Dieter Schmidt
Topics