ABCA8 - ATP binding cassette subfamily A member 8 Gene

Homo sapiens

Gene ID: 10351 | Gene type: protein coding

About ABCA8

Cytogenetic location: 17q24.2 Genomic coordinates (GRCh38): 17:68,867,289-68,955,392 (from NCBI)

This gene has 14 transcripts (splice variants), 98 orthologues and 11 paralogues. Broad expression in fat (RPKM 21.2), ovary (RPKM 21.1) and 22 other tissues.

Summary

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. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

ABCA8 Products(5)

mRNA	Protein	Name
NM_001288985.2	NP_001275914.1	ABC-type organic anion transporter ABCA8 isoform 1
NM_001288986.2	NP_001275915.1	ABC-type organic anion transporter ABCA8 isoform 3
NM_001375771.1	NP_001362700.1	ABC-type organic anion transporter ABCA8 isoform 4
NM_001375772.1	NP_001362701.1	ABC-type organic anion transporter ABCA8 isoform 5
NM_007168.4	NP_009099.1	ABC-type organic anion transporter ABCA8 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ABC-type transporter activity	IMP IMP: Inferred from mutant phenotype	29300488	GOA
enables ABC-type xenobiotic transporter activity	IDA IDA: Inferred from direct assay	12379217	GOA
enables ABC-type xenobiotic transporter activity	IMP IMP: Inferred from mutant phenotype	12379217	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cholesterol efflux	IMP IMP: Inferred from mutant phenotype	29300488	GOA
involved in cholesterol transport	IMP IMP: Inferred from mutant phenotype	29300488	GOA
involved in positive regulation of cholesterol efflux	IMP IMP: Inferred from mutant phenotype	23560799	GOA
involved in regulation of cholesterol efflux	IMP IMP: Inferred from mutant phenotype	28882873	GOA
involved in sphingomyelin biosynthetic process	IMP IMP: Inferred from mutant phenotype	23560799	GOA
involved in xenobiotic transmembrane transport	IDA IDA: Inferred from direct assay	12379217	GOA
involved in xenobiotic transport	IMP IMP: Inferred from mutant phenotype	12379217	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	28882873	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	28882873	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABCA8 Protein Structure

ABC2_membrane_3

ABC_tran

ABC2_membrane_3

ABC_tran

0
300
600
900
1200
1581 a.a.

Protein Preferred Names

Protein Names

ABC-type organic anion transporter ABCA8

ATP-binding cassette, sub-family A (ABC1), member 8

Related Diseases

Diseases

Alias

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis	Congenital Ichthyosiform Erythroderma
Li	Congenital Nonbullous Ichthyosiform Erythroderma
Arci	Congenital Lamellar Ichthyosis
Nonbullous Congenital Ichthyosiform Erythroderma	Cie
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythrodermic Ichthyosis
Nbcie	Ncie
Non-Bullous Congenital Ichthyosiform Erythroderma	Collodion Baby
Ichthyosis, Lamellar	Non Bullous Congenital Ichthyosiform Erythroderma
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form	Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Collodion Baby Syndrome	Ichthyoses, Lamellar
Nbie	Nonbullous Ichthyosiform Erythroderma
Classic Lamellar Ichthyosis	Ichthyosiform Erythroderma Nonbullous Congenital
Ichthyosiform Erythroderma Congenital	Ichthyosis, Congenital, Autosomal Recessive
Ichthyosiform Erythroderma, Congenital	Collodion Fetus
Non-Bullous Ichthyosiform Erythroderma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00046	ABCA8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ABCA8	VGNC	VGNC:69568
Canis familiaris	ABCA8	VGNC	VGNC:37430
Felis catus	ABCA8	VGNC	VGNC:59467
Rattus norvegicus	ABCA8	RGD	RGD:1307069

Name
Email *

	Sorry, but the email address you supplied was invalid.