ABCA13 - ATP binding cassette subfamily A member 13 Gene

Homo sapiens

Gene ID: 154664 | Gene type: protein coding

About ABCA13

Cytogenetic location: 7p12.3 Genomic coordinates (GRCh38): 7:48,171,458-48,647,497 (from NCBI)

This gene has 8 transcripts (splice variants), 118 orthologues and 11 paralogues. Biased expression in bone marrow (RPKM 8.6) and thyroid (RPKM 0.4).

Summary

In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand Amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009]

ABCA13 Products(1)

mRNA	Protein	Name
NM_152701.5	NP_689914.3	ATP-binding cassette sub-family A member 13

ABCA13 Protein Structure

ABC2_membrane_3

ABC_tran

ABC2_membrane_3

ABC_tran

0
800
1600
2400
3200
4000
5058 a.a.

Protein Preferred Names

Protein Names

ATP-binding cassette sub-family A member 13

ATP binding cassette transporter A13

Related Diseases

Diseases

Alias

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Nephrotic Syndrome, Type 4

NPHS4	Nephrotic Syndrome Type 4
Nephrotic Syndrome 4	Isolated Diffuse Mesangial Sclerosis

Hypoalphalipoproteinemia, Primary, 1

Familial Hdl Deficiency	Fha
High Density Lipoprotein Deficiency	Familial Hypoalphalipoproteinemia
Hypoalphalipoproteinemia, Familial	Hdld
Fhd	Hdl Deficiency, Type 2
Primary Hypoalphalipoproteinemia 1	Hdl Cholesterol, Low Serum
Hdlc	Hdl Deficiency, Familial, 1
Hypoalphalipoproteinemia, Primary	Low Serum Hdl Cholesterol
Primary Hypoalphalipoproteinemia	FHA1
Hdld2	High Density Lipoprotein Deficiency 2
Hypoalphalipoproteinemias	Apolipoprotein A-I Deficiency

Astigmatism

Tangier Disease

Analphalipoproteinemia	High Density Lipoprotein Deficiency, Tangier Type
TGD	High Density Lipoprotein Deficiency, Type 1
Hdldt1	Familial High Density Lipoprotein Deficiency
A-Alphalipoprotein Neuropathy	Alpha High Density Lipoprotein Deficiency Disease
Cholesterol Thesaurismosis	Familial High Density Lipoprotein Deficiency Disease
Hdl Lipoprotein Deficiency Disease	Tangier Disease Neuropathy
Familial Alpha-Lipoprotein Deficiency	Familial High-Density Lipoprotein Deficiency 1
Primary Hypoalphalipoproteinemia 1	Analphalipo-Proteinemia
Familial Hypoalphalipo-Proteinemia	Familial Hypoalphalipoproteinemia
Lipoprotein Deficiency Disease, Hdl, Familial	Tangier Hereditary Neuropathy
Atp-Binding Cassette Transporter A1 Deficiency	Hdld1
High Density Lipoprotein Deficiency 1	Tangier Disease, Variant
Hypoalphalipoproteinemia, Familial	Familial Hdl Deficiency

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-RS00040	ABCA13 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ABCA13	VGNC	VGNC:69402
Rattus norvegicus	ABCA13	RGD	RGD:1305895
Felis catus	ABCA13	VGNC	VGNC:59463
Bos taurus	ABCA13	VGNC	VGNC:59317
Canis familiaris	ABCA13	VGNC	VGNC:37424
Mus musculus	ABCA13	MGD	MGI:2388707

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