ABCA9 - ATP binding cassette subfamily A member 9 Gene

Homo sapiens

Also known as EST640918

Gene ID: 10350 | Gene type: protein coding

About ABCA9

Cytogenetic location: 17q24.2 Genomic coordinates (GRCh38): 17:68,974,488-69,078,977 (from NCBI)

This gene has 8 transcripts (splice variants), 105 orthologues and 11 paralogues. Broad expression in ovary (RPKM 11.3), fat (RPKM 8.9) and 17 other tissues.

Summary

This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. 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, and White). This gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by Cholesterol import. [provided by RefSeq, Jul 2008]

ABCA9 Products(1)

mRNA	Protein	Name
NM_080283.4	NP_525022.2	ATP-binding cassette sub-family A member 9

ABCA9 Protein Structure

ABC2_membrane_3

ABC_tran

ABC2_membrane_3

ABC_tran

0
300
600
900
1200
1500
1624 a.a.

Protein Preferred Names

Protein Names

ATP-binding cassette sub-family A member 9

ATP-binding cassette A9

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-RS00047	ABCA9 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ABCA9	VGNC	VGNC:99111
Felis catus	ABCA9	VGNC	VGNC:59468
Bos taurus	ABCA9	VGNC	VGNC:50181
Mus musculus	ABCA9	MGD	MGI:2386796
Rattus norvegicus	ABCA9	RGD	RGD:1305931

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