MuScle-logoMuScle - Molecule ID B0134

geneABCR, ABCA4
nameRetinal-specific ATP-binding cassette transporter
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
ABCA4_HUMANP78363ENSG0000019869124Hs.416707153800, 248200, 601691, 601718, 604116

Functions and classifications

GOC:integral component of plasma membrane, C:photoreceptor disc membrane, F:ATP binding, F:ATPase activity, coupled to transmembrane movement of substances, F:phospholipid-translocating ATPase activity, P:phospholipid transfer to membrane, P:phospholipid translocation, P:photoreceptor cell maintenance, P:phototransduction, visible light, P:retinoid metabolic process, P:visual perception, F:ATPase activity, P:ATP catabolic process, P:visual perception, "C:integral to plasma membrane, C:plasma membrane
UniProtAge-related macular degeneration, ATP-binding, Complete proteome, Cone-rod dystrophy, Disease mutation, Disulfide bond, Glycoprotein, Membrane, Nucleotide-binding, Polymorphism, Reference proteome, Repeat, Retinitis pigmentosa, Sensory transduction, Stargardt disease, Transmembrane, Transmembrane helix, Transport, Vision
PADBTP: transport, storage, endocytosis, exocytosis, vesicles

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceDiseaseFold change in diseaseP-valuePubMed/DOI
Exp21886806Homo sapiens12BloodRRMS_(IFN-Beta-1a_24_month_follow-up) (Multiple sclerosis)1.200.035869721886806
Exp22491253Homo sapiens7BloodRRMS_(High_Sema4A) (Multiple sclerosis)0.220.0306092322491253

Compile date 09-07-2016© MuScle project