Common Name:	ABCA8
HGNC Symbol:	ABCA8
HGNC Description:	ATP-binding cassette, sub-family A (ABC1), member 8
HGNC ID:	38
Chromosome:	Chr.17(-): 64375025-64463128
Location:	17q24
OMIM:
OMIM Phenotype:	None
Accessions:	NM_007168
Nucleotide RefSeq:	NM_007168
Protein RefSeq:	NP_009099
Entrez:	10351
Isoforms:	1
Evidence:	Substrate In Vitro Evidence: Xenopus laevis oocytes. Tsuruoka S, et al. Biochem Biophys Res Commun. 2002; 298: 41-5. Estradiol-(-glucuronide KM = 30.4 uM LTC4 KM = 0.1 uM Taurocholate KM = 10.3 uM MS-209 Inhibited estradiol-(-glucuronide uptake MK-571 Inhibited estradiol-(-glucuronide uptake Ochratoxin A Inhibited estradiol-(-glucuronide uptake Tissue Distribution Evidence: Testis, Trachea >>> Uterus, Prostate 1. TaqMan RT-PCR. Langmann T, et al. Clinical Chemistry. 2003; 49: 230-8. Heart >> Skeletal muscle, liver 1. Northern Blot. Tsuruoka S, et al. Biochem Biophys Res Commun. 2002; 298: 41-5.
Tissues:	Heart, Skeletal muscle, Testis, Trachea, Liver, Uterus, Prostate
Type:	protein coding
Sets:	V
PharmGKB ID:	PA24383
HPRD ID:	09790
Substrates:	Estradiol-b-glucuronide, LTC4, Taurocholate, MS-209, MK571, Ochratoxin A
Trivial Names:	KIAA0822, MGC163152
Transcripts:	NM_007168 [Chr.17(-): 64375025-64463128]

ABCA8 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.