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ATPase Types

MitochondrialIon Channels / MembraneOMIM 259700
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Overview

From WUSTL Neuromuscular

P-Family Catalyze cation uptake and/or efflux driven by ATP hydrolysis Cellular location: Plasma or endoplasmic reticular membranes Examples Na+, K+-ATPases (ATP1A; ATP1B): 3Na+ exchanged for 2K+ per ATP molecule hydrolyzed Ca++-ATPases (ATP2A; ATP2B; ATP2C): May catalyze Ca++-K+ antiport Gastric H+-translocating ATPases (ATP5): Replace H+ for Na+ Disorders External link: TCDB F-ATPase Family F-Type ATPases Mitochondrial Functional components CF(1) Catalytic core 5 subunits: a, b, g, d, e CF(0) Membrane proton channel 3 subunits: A, B, C Pump 3-4 H+ out of mitochondria per ATP hydrolyzed Examp

OMIM Entries

OMIM #259700OMIM #604592

Related Conditions

Shared genes
ATP Disorders
ATPASE
Inclusion Body Myopathy with Paget disease of Bone & Dementia 1 (IBMPFD1)
ATPASE
Myotonic Dystrophy 1 (DM1)
ATPASERNAHT
POTASSIUM CHANNELS
ATPASEPLASMOLIPIN
Rhabdomyolysis, Recurrent (RHABDO2)
ATPASE

External Resources

WUSTL Neuromuscular
Washington University Disease Center
OMIM
Online Mendelian Inheritance in Man
PubMed
Biomedical Literature
GeneReviews
NCBI Expert-Authored Reviews
Orphanet
Portal for Rare Diseases
NORD
National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.