full name
ATP binding cassette subfamily A member 4

synonyms
ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1, ABCA4, ENSG00000198691

HGNC
HGNC:34

Entrez Gene
Gene:24

ENSEMBL
ENSG00000198691

location
chr: 1
start: 94458393
stop: 94586705
strand: -

OMIM
OMIM:601691: ABCA4
OMIM:604116: Cone-rod dystrophy 3
OMIM:248200: Fundus flavimaculatus
OMIM:248200: Retinal dystrophy, early-onset severe
OMIM:601718: Retinitis pigmentosa 19
OMIM:248200: Stargardt disease 1
OMIM:153800: {Macular degeneration, age-related, 2}

transcripts
ENST00000370225

pathways
ABC transporters [NCBI:83035] [KEGG:hsa02010] [PUBMED:10557362] [PUBMED:18424520] [PUBMED:16135226] [PUBMED:18375759] [PUBMED:9799792] [PUBMED:18805970] [PUBMED:18326572] [PUBMED:17873039] [PUBMED:11731493] [PUBMED:11929526] [PUBMED:17214741] [PUBMED:16109926]
ABC-family proteins mediated transport [NCBI:1269904] [REACTOME:R-HSA-382556] [PUBMED:11435397] [PUBMED:12045106] [PUBMED:19234479]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:19648010] [PUBMED:17604717] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:15863030] [PUBMED:21252999] [PUBMED:19379690] [PUBMED:19536106] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:15450248] [PUBMED:15520807] [PUBMED:16939974] [PUBMED:18483217] [PUBMED:18043707] [PUBMED:19762341] [PUBMED:21781017] [PUBMED:17084981] [PUBMED:19619488] [PUBMED:17496910]
The canonical retinoid cycle in rods (twilight vision) [NCBI:1269625] [REACTOME:R-HSA-2453902] [PUBMED:20188572] [PUBMED:16688755] [PUBMED:22074927] [PUBMED:21350678]
Transmembrane transport of small molecules [NCBI:1269903] [REACTOME:R-HSA-382551]
Visual phototransduction [NCBI:1269623] [REACTOME:R-HSA-2187338] [PUBMED:15384919] [PUBMED:22074928] [PUBMED:20188572] [PUBMED:21111842] [PUBMED:8382952] [PUBMED:21350678] [PUBMED:22074927] [PUBMED:20430952] [PUBMED:16011460] [PUBMED:11340090] [PUBMED:16688755] [PUBMED:22658984]