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Descriptor English: ATP Binding Cassette Transporter, Subfamily A, Member 4
Descriptor Spanish: Miembro 4 de la Subfamilia A de Transportadores de Casetes de Unión al ATP
Descriptor transportador de casetes de unión al ATP, subfamilia A, miembro 4
Entry term(s) proteína de la enfermedad de Stargardt
transportador ABCA4
transportador de casetes de unión a ATP específico de la retina
Scope note: Subfamilia A de transportadores de casetes de unión a ATP que translocan isómeros todo-trans y 11-cis de la N-retinilideno-fosfatidiletanolamina (RETINOIDES) de la superficie extracelular a la superficie de la membrana citoplasmática de los BASTONES RETINIANOS y de los CONOS RETINIANOS. Las mutaciones del gen ABCA4 se asocian a la enfermedad de Stargardt 1, una forma hereditaria juvenil de DEGENERACIÓN MACULAR.
Descriptor Portuguese: Membro 4 da Subfamília A de Transportadores de Cassetes de Ligação de ATP
Descriptor French: Membre-4 de la sous-famille A de transporteurs à cassette liant l'ATP
Entry term(s): ABCA4 Transporter
ATP Binding Cassette Transporter, Sub-Family A, Member 4
Retinal Specific ATP Binding Cassette Transporter
Retinal-Specific ATP-Binding Cassette Transporter
Stargardt Disease Protein
Transporter, ABCA4
Tree number(s): D09.400.430.890.020.381.750
D12.776.157.530.100.050.750
D12.776.395.550.020.381.750
D12.776.543.550.192.381.750
D12.776.543.585.100.190.750
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D000073882
Scope note: An ATP binding cassette sub-family A transporter that translocates 11-cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine (RETINOIDS) from the extracellular surface to the cytoplasmic membrane surface of RETINAL ROD CELLS and RETINAL CONE CELLS. Mutations in the ABCA4 gene are associated with Stargardt Disease 1, a hereditary juvenile form of MACULAR DEGENERATION.
Allowable Qualifiers: AD administration & dosage
AE adverse effects
AG agonists
AI antagonists & inhibitors
AN analysis
BI biosynthesis
BL blood
CF cerebrospinal fluid
CH chemistry
CL classification
CS chemical synthesis
DE drug effects
DF deficiency
EC economics
GE genetics
HI history
IM immunology
IP isolation & purification
ME metabolism
PD pharmacology
PH physiology
PK pharmacokinetics
PO poisoning
RE radiation effects
SD supply & distribution
ST standards
TO toxicity
TU therapeutic use
UL ultrastructure
UR urine
Previous Indexing: ATP-Binding Cassette Transporters (1998-2017)
Membrane Proteins (1988-2017)
Public MeSH Note: 2019; see ATP BINDING CASSETTE TRANSPORTER, SUB-FAMILY A, MEMBER 4 2018
History Note: 2019 (2018)
DeCS ID: 57073
Unique ID: D000073882
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2018/01/01
Date of Entry: 2017/07/11
Revision Date: 2018/02/28
ATP Binding Cassette Transporter, Subfamily A, Member 4 - Preferred
Concept UI M000624186
Scope note An ATP binding cassette sub-family A transporter that translocates 11-cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine (RETINOIDS) from the extracellular surface to the cytoplasmic membrane surface of RETINAL ROD CELLS and RETINAL CONE CELLS. Mutations in the ABCA4 gene are associated with Stargardt Disease 1, a hereditary juvenile form of MACULAR DEGENERATION.
Preferred term ATP Binding Cassette Transporter, Subfamily A, Member 4
Entry term(s) ABCA4 Transporter
ATP Binding Cassette Transporter, Sub-Family A, Member 4
Retinal Specific ATP Binding Cassette Transporter
Retinal-Specific ATP-Binding Cassette Transporter
Stargardt Disease Protein
Transporter, ABCA4



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