Protein Abca4

URN	urn:agi-llid:24
Connectivity	20
Name	Abca4
Description	ATP-binding cassette, sub-family A (ABC1), member 4
Notes	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq]

Pathway	retinoid cycle metabolic pathway

GO Molecular Function	transporter activity
	nucleotide binding
	ATP binding
	ATPase activity, coupled to transmembrane movement of substances
	nucleoside-triphosphatase activity
	ATPase activity
	phospholipid-translocating ATPase activity
	phospholipid transporter activity

GO Biological Process	response to stimulus
	transport
	visual perception
	phototransduction, visible light
	photoreceptor cell maintenance
	phospholipid transfer to membrane

Ariadne Ontology	Lipid export

Group	Lipid export
	transporter activity
	response to stimulus
	transport
	visual perception
	phototransduction, visible light
	photoreceptor cell maintenance
	phospholipid transfer to membrane
	nucleotide binding
	ATP binding
	ATPase activity, coupled to transmembrane movement of substances
	nucleoside-triphosphatase activity
	ATPase activity
	phospholipid-translocating ATPase activity
	phospholipid transporter activity
	membrane
	membrane fraction
	integral to membrane
	integral to plasma membrane

MedScan ID	24

Hugo ID	34

Human chromosome position	1p22.1-p21

Alias	FFM
	RMP
	ABCR
	RP19
	STGD
	ABC10
	ARMD2
	CORD3
	STGD1
	FLJ17534
	DKFZp781N1972
	retinal-specific ATP-binding cassette transporter
	RIM protein
	RIM ABC transporter
	photoreceptor rim protein
	stargardt disease protein
	retina-specific ABC transporter
	ATP binding cassette transporter
	ATP-binding transporter, retina-specific
	ATP-binding cassette sub-family A member 4
	ATP-binding cassette transporter, retinal-specific
	AW050280
	D430003I15Rik
	ATP-binding cassette 10
	Abca4
	ATP binding cassette transporter 10
	ATP-binding cassette transporter A (ABC1) 4
	ATP-binding cassette transporter A (ABC1) IV
	ATP-binding cassette transporter A 4
	ATP-binding cassette transporter A IV
	ATP-binding cassette, sub-family A (ABC1), member 4
	ATP-binding cassette, sub-family A (ABC1), member IV
	ATP-binding cassette, sub-family A member 4
	ATP-binding cassette, sub-family A member IV
	CORD-3
	D430003I15
	LOC310836
	OTTHUMP00000012366
	retina-specific ATP-binding transporter
	retinitis pigmentosa 19 (autosomal recessive)
	Stargardt disease gene
	STGD I

Mouse chromosome position	3 61.8 cM

Rat chromosome position	2q41

Cell Localization	Membrane
	Plasma membrane

Homologene ID	298

RGD ID	1309445

MGI ID	109424