Gene: [16p121/ATP2A1] ATPase, Ca++ transporting, cardiac muscle, fast twitch 1; sarcoplasmic reticulum Ca(2+)-ATPase 1; Brody's disease (muscle contracture due to exercise; MIM:601003);


FUN

[1] Sarcoplasmic reticulum Ca(2+)-ATPases (ATP2A) are membrane-spanning proteins that transport Ca(2+) across membranes bordering Ca(2+)-sequestering stores such as the sarcoplasmic or endoplasmic reticulum.
[2] Systematic name: ATP phosphohydrolase (Ca(2+)-transporting).
[3] The reaction catalyzed: ATP + H(2)O = ADP + orthophosphate."

FAG

[1] Several human genes coding for Ca-dependent ATPases are assumed: GEM:16p121/ATP2A1; GEM:12q2/ATP2A2; GEM:17p133/ATP2A3; GEM:12q2/ATP2B1; GEM:03p2/ATP2B2; GEM:0Xq28/ATP2B3; GEM:01q/ATP2B4; and GEM:00.0/ATP2C.
[2] Along with Na,K- and H-dependent ATPases, this group is included to the multigene superfamily of transporting ATPases (see FAM:ATP/00.0)."

REF

MAM,PEP,SEQ,FUN,EVO "Brandl CJ &: Cell, 44, 597-607, 1986
PAT "Brody IA: New Engl J Med, 281, 187-192, 1969
MAM,FUN,MOL,ENG "Clarke &: JBC, 264, N19, 11246-11251, 1989
IDN,PEP,FUN "Inesi &: JBC, 255, 3025-3031, 1980
PAT "Karpati &: Ann Neurol, 20, 38-49, 1986
HUM,LOC,MOL,FAG "MacLennan DH &: Somat Cell Mol Genet, 13, 341-346, 1987
MAM,PEP,SEQ,FUN,EVO "MacLennan DH &: Nature, 316, 696-700, 1985
IDN,PEP,FUN "MacLennan DH: JBC, 245, 4508-4518, 1970

KEY

neu, card, ion

CLA

coding, basic

LOC

16 p12.1

MIM

MIM: 108730

EZN

ENZYME: 3.6.1.38

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