ABCA5 - ATP binding cassette subfamily A member 5 Gene

Homo sapiens

Also known as HTC3; ABC13; EST90625

Gene ID: 23461 | Gene type: protein coding

About ABCA5

Cytogenetic location: 17q24.3 Genomic coordinates (GRCh38): 17:69,244,311-69,327,133 (from NCBI)

This gene has 14 transcripts (splice variants), 219 orthologues, 11 paralogues and is associated with 2 phenotypes. Ubiquitous expression in skin (RPKM 10.7), small intestine (RPKM 5.7) and 25 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, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]

ABCA5 Products(2)

mRNA	Protein	Name
NM_018672.5	NP_061142.2	cholesterol transporter ABCA5
NM_172232.4	NP_758424.1	cholesterol transporter ABCA5

ABCA5 Protein Structure

ABC2_membrane_3

ABC_tran

ABC2_membrane_3

ABC_tran

0
300
600
900
1200
1500
1642 a.a.

Protein Preferred Names

Protein Names

cholesterol transporter ABCA5

ATP-binding cassette A5

Related Diseases

Diseases

Alias

Hypertrichosis, Congenital Generalized, With Or Without Gingival Hyperplasia

Gingival Fibromatosis-Hypertrichosis Syndrome	Hypertrichosis Terminalis, Generalized, With Or Without Gingival Hyperplasia
HTC3	Fibromatosis, Gingival, With Hypertrichosis
Chromosome 17q24.2-Q24.3 Deletion Syndrome	Chromosome 17q24.2-Q24.3 Duplication Syndrome
Microdeletion 17q24.2-Q24.3 Syndrome	Microduplication 17q24.2-Q24.3 Syndrome
Gingival Fibromatosis With Hypertrichosis	Extreme Hirsutism With Gingival Fibromatosis
Hereditary Gingival Fibromatosis With Hypertrichosis	Hypertrichosis Terminalis, Generalized, With Gingival Hyperplasia
Cght	Congenital Generalized Hypertrichosis Terminalis
Hirsutism-Congenital Gingival Hyperplasia Syndrome	Hypertrichosis With Or Without Gingival Hyperplasia

Joubert Syndrome 4

JBTS4	Joubert Syndrome With Renal Defect
Joubert Syndrome With Renal Anomalies	Js-R
Joubert Syndrome, Type 4

Keratosis Follicularis Spinulosa Decalvans

Kfsd	Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Hypertrichosis

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-RS00043	ABCA5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ABCA5	VGNC	VGNC:37428
Felis catus	ABCA5	VGNC	VGNC:98756
Bos taurus	ABCA5	VGNC	VGNC:25459
Mus musculus	ABCA5	MGD	MGI:2386607
Rattus norvegicus	ABCA5	RGD	RGD:628661
Macaca mulatta	ABCA5	VGNC	VGNC:99109

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