Common Name:	ABC10
HGNC Symbol:	ABCA4
HGNC Description:	ATP-binding cassette, sub-family A (ABC1), member 4
HGNC ID:	34
Chromosome:	Chr.1(-): 94230981-94359293
Location:	1p22.1-p21
OMIM:	601691
OMIM Phenotype:	Startgardt disease 1; Macular degeneratons, age-related, 2; Retinitis pigmentosa 19; Cone-rod dystrophy 3; Fundus flavimaculatus
Accessions:	AF000148,U88667
Nucleotide RefSeq:	NM_000350
Protein RefSeq:	NP_000341
Entrez:	24
Isoforms:	1
Evidence:	Substrate In Vitro Evidence: 1. all-trans-retinal aldehyde - stimulation of ATPase activity of bovine ABCR - Sun H et al, JBC 1999: 8269-8281 Substrate In Vivo Evidence: 1. Stargardt Disease - Yatsenko AN et al, Human Mutation 2003: 636-644 2. Recessive Cone-Rod Dystrophy - Maugeri A et al, American Journal of Human Genetics 2000: 960-966 Tissue Distribution Evidence: Photoreceptors - IHC and Western Blot - Molday LL et al, Nature Genetics 2000: 257-8
Tissues:	photoreceptors
Type:	protein coding
Sets:	0
PharmGKB ID:	PA24379
HPRD ID:	03408
Substrates:	all-trans-retinal aldehyde
Trivial Names:	FFM, RMP, ABCR, RP19, STGD, ABC10, ARMD2, CORD3, STGD1, FLJ17534, DKFZp781N1972
Transcripts:	NM_000350 [Chr.1(-): 94230981-94359293]

ABCA4 Resequencing

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.