ABCA3 - ATP binding cassette subfamily A member 3 Gene

Homo sapiens

Also known as ABC3; ABC-C; SMDP3; LBM180; EST111653

Gene ID: 21 | Gene type: protein coding

About ABCA3

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:2,275,881-2,340,728 (from NCBI)

This gene has 6 transcripts (splice variants), 240 orthologues, 11 paralogues and is associated with 4 phenotypes. Biased expression in lung (RPKM 66.7), brain (RPKM 21.3) and 5 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 full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]

ABCA3 Products(1)

mRNA	Protein	Name
NM_001089.3	NP_001080.2	phospholipid-transporting ATPase ABCA3

ABCA3 Protein Structure

ABC2_membrane_3

ABC_tran

ABC2_membrane_3

ABC_tran

0
300
600
900
1200
1500
1704 a.a.

Protein Preferred Names

Protein Names

phospholipid-transporting ATPase ABCA3

ABC transporter 3

Related Diseases

Diseases

Alias

Surfactant Metabolism Dysfunction, Pulmonary, 3

Interstitial Lung Disease Due To Abca3 Deficiency	SMDP3
Pulmonary Alveolar Proteinosis, Congenital, 3	Interstitial Lung Disease Due To Atp-Binding Cassette Subfamily A Member 3 Deficiency
Pulmonary Surfactant Metabolism Dysfunction 3	Congenital Pulmonary Alveolar Proteinosis 3
Pap	Surfactant Metabolism Dysfunction, Pulmonary, Type 3

Primary Interstitial Lung Disease Specific To Childhood Due To Pulmonary Surfactant Protein Anomalies

Primary Ild Specific To Childhood Due To Pulmonary Surfactant Protein Anomalies

Newborn Respiratory Distress Syndrome

Hyaline Membrane Disease	Respiratory Distress Syndrome Of Newborn
Neonatal Respiratory Distress	Hmd - Hyaline Membrane Disease
Neonatal Respiratory Distress Syndrome	Pulmonary Hyaline Membrane Disease
Pulmonary Hypoperfusion Syndrome Of Newborn	Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome	Cardiorespiratory Distress Syndrome Of Newborn
Distress Respiratory Syndrome Newborn	Idiopathic Respiratory Distress Syndrome
Idiopathic Respiratory Distress Syndrome Of Newborn	Newborn Idiopathic Respiratory Distress Syndrome
Respiratory Distress Syndrome In Newborn	Rds - [Respiratory Distress Syndrome] Of Newborn
Newborn Cardiorespiratory Distress Syndrome

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis	Ipf
Fibrocystic Pulmonary Dysplasia	Pulmonary Fibrosis, Idiopathic
Pulmonary Fibrosis, Idiopathic, Susceptibility To	Cryptogenic Fibrosing Alveolitis
ILD2	Idiopathic Pulmonary Fibrosis, Familial
Fibrosing Alveolitis, Cryptogenic	Uip
Fibrosing Alveolitis	Interstitial Pneumonitis, Usual
Familial Idiopathic Pulmonary Fibrosis	Idiopathic Fibrosing Alveolitis, Chronic Form
Usual Interstitial Pneumonia	Fibrosing Alveolitis Cryptogenic
Hamman-Rich Disease	Idiopathic Pulmonary Fibrosis Familial
Interstitial Pneumonitis Usual	Fibrosis Idiopathic Pulmonary
Fibrosis, Pulmonary, Idiopathic	Hamman-Rich Syndrome
Chronic Idiopathic Pulmonary Fibrosis	Acute Interstitial Pneumonia
Interstitial Pulmonary Fibrosis	Ipf - [Idiopathic Pulmonary Fibrosis]
Idiopathic Lung Fibrosis	Fibrosing Lung Disease
Pulmonary Fibrosis Nos	Fibrosing Pneumonitis

Respiratory Distress Syndrome In Premature Infants

Hyaline Membrane Disease	Infant Respiratory Distress Syndrome
Rds Of Prematurity	Hyaline Membrane Disease, Formerly
Infant Acute Respiratory Distress Syndrome	Infant Ards
Neonatal Respiratory Distress Syndrome	Respiratory Distress Syndrome, Infant
RDS	Rds In Prematurity
Respiratory Distress Syndrome, Newborn	Rds - Infants

Respiratory Failure

Acute Respiratory Failure	Chronic Respiratory Failure
Respiratory Insufficiency	Acute-On-Chronic Respiratory Failure
Respiratory Disease	Acute And Chronic Respiratory Failure
Respiratory Insufficiency/Failure	Chronic Respiratory Disease
Pulmonary Valve Insufficiency	Chronic Disease Of Respiratory System
Respiration Disorders	Respiratory Tract Diseases
Lung Failure Nos	Pulmonary Failure
Arf - [Acute Respiratory Failure]	Acute Respiratory Insufficiency
Acute Pulmonary Insufficiency	Acute Respiration Failure
Chronic Respiration Failure

Neonatal Respiratory Failure

Respiratory Failure Of Newborn	Inadequate Pulmonary Ventilation Of Newborn
Newborn Lung Insufficiency	Newborn Pulmonary Function Inadequate
Newborn Pulmonary Insufficiency	Newborn Respiration Failure
Newborn Respiratory Insufficiency	Respiratory Insufficiency Syndrome Of Newborn

Pulmonary Hypertension, Primary, 1

Pulmonary Arterial Hypertension	Pah
Idiopathic Pulmonary Arterial Hypertension	Idiopathic Pulmonary Hypertension
Primary Pulmonary Hypertension	PPH1
Pulmonary Hypertension, Primary, Fenfluramine Or Dexfenfluramine-Associated	Pulmonary Hypertension, Familial Primary, 1, With Or Without Hht
Pph	Familial Primary Pulmonary Hypertension
Sporadic Primary Pulmonary Hypertension	Pht
Fpah	Familial Pulmonary Arterial Hypertension
Hereditary Pulmonary Arterial Hypertension	Heritable Pulmonary Arterial Hypertension
Ayerza Syndrome	Fpph
Ppht	Ipah
Primary Pulmonary Arterial Hypertension	Pulmonary Hypertension, Familial Primary
Hypertension, Pulmonary, Primary, Type 1	Ayerza'S Syndrome
Pah - [Pulmonary Arterial Hypertension]	Arrillaga Ayerza Syndrome

Lung Disease

Lung Diseases	Disorder Of Lung
Abnormality Of The Lung

Interstitial Pneumonitis, Desquamative, Familial

Desquamative Interstitial Pneumonia	DIP
Pneumonitis, Desquamative Interstitial, Familial	Pneumonia, Desquamative Interstitial, Familial
Interstitial Lung Disease, Desquamative	Ild, Desquamative
Familial Desquamative Interstitial Pneumonitis	Rbild
Respiratory Bronchiolitis-Associated Interstitial Lung Disease	Respiratory Bronchiolitis Associated Interstitial Lung Disease

Interstitial Lung Disease

Ild	Lung Diseases, Interstitial
Lung Diseases Interstitial	Interstitial Lung Diseases

Osteogenesis Imperfecta, Type X

Osteogenesis Imperfecta Type 10	OI10
Osteogenesis Imperfecta Type X	Oi, Type X
Osteogenesis Imperfecta 10	Oi Type X
Oi-X

Pulmonary Hemosiderosis

Idiopathic Pulmonary Hemosiderosis	Alveolar Hypoventilation Syndrome
Brown Induration	Brown Lung
Siderosis	Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Byssinosis

Pseudoxanthoma Elasticum

PXE	Gronblad-Strandberg Syndrome
Pseudoxanthoma Elasticum, Modifier Of Severity Of	Gronblad-Strandberg-Touraine Syndrome
Gronblad Strandberg Syndrome	Groenblad-Strandberg Syndrome
Nevus Elasticus	Pxe - [Pseudoxanthoma Elasticum]

Diffuse Pulmonary Fibrosis

Pulmonary Alveolar Microlithiasis

PULAM

Pam

Nonspecific Interstitial Pneumonia

Nsip	Non-Specific Interstitial Pneumonia
Non-Specific Idiopathic Interstitial Pneumonia	Non-Specific Interstitial Pneumonia Nos

Pulmonary Interstitial Emphysema

Pulmonary Immaturity

Primary Atelectasis Of Newborn	Primary Atelectasis, In Perinatal Period
Primary Failure To Expand Terminal Respiratory Units	Immature Lungs
Primary Atelectasis	Pulmonary Immaturity Nos
Lung Lobe Hypoplasia, Associated With Short Gestation	Lung Nonexpansion
Premature Lungs	Pulmonary Hypoplasia Associated With Short Gestation
Failure Of Expansion Of Terminal Respiratory Units	Primary Atelectasis Of Fetus Or Newborn
Primary Atelectasis In Perinatal Period

Chronic Congestive Splenomegaly

Idiopathic Interstitial Pneumonia

Hamman-Rich Syndrome	Diffuse Idiopathic Pulmonary Fibrosis
Idiopathic Fibrosing Alveolitis	Ipf
Idiopathic Interstitial Pneumonias	Idiopathic Interstitial Pneumonia, Not Otherwise Specified
Pulmonary Fibrosis

Lipid Pneumonia

Exogenous Lipoid Pneumonia	Lipoid Pneumonitis
Pneumonia, Lipid	Pneumonia Lipid
Lipoid Pneumonia

Lysinuric Protein Intolerance

LPI	Dibasic Amino Aciduria Ii
Hyperdibasic Aminoaciduria	Dibasic Aminoaciduria 2
Dibasicamino Aciduria Ii	Congenital Lysinuria
Lpi - Lysinuric Protein Intolerance

Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects

Child Syndrome	Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs
Child Nevus	Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects
Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects	Ichthyosis, Child Syndrome
Child Syndrome Ichthyosis	CHILD

Meconium Aspiration Syndrome

Neonatal Aspiration Of Meconium	Meconium Aspiration
Mas	Meconium Aspiration Syndrome Of Newborn
Meconium Inhalation	Mas - [Meconium Aspiration Syndrome]
Meconium Aspiration Nos	Meconium Aspiration Syndrome Nos
Meconium Pneumonitis	Meconium Stained Liqueur Aspiration

Ichthyosis, Congenital, Autosomal Recessive 4b

Harlequin Ichthyosis	Autosomal Recessive Congenital Ichthyosis 4b
Hi	Harlequin Fetus
ARCI4B	Ichthyosis Congenita, Harlequin Fetus Type
Harlequin Type Ichthyosis	'Harlequin Fetus'
Harlequin Type Ichthyosis Congenita	Harlequin Type Ichthyosis Fetalis
Harlequin Baby Syndrome	Ichthyosis Congenita, Harlequin Type
Ichthyosis Fetalis, Harlequin Type	Ichthyosis Congenita Harlequin Fetus Type
Ichthyosis, Harlequin	Ichthyosis, Congenital, Autosomal Recessive, Type 4b

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

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

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

Hermansky-Pudlak Syndrome

Hps	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Hermanski-Pudlak Syndrome	Hermansky Pudlak Syndrome
Platelet Storage Pool Deficiency

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia	Diaphragmatic Hernia
Cdh	Congenital Diaphragmatic Defect
Hernia, Diaphragmatic	Dih
Hernia, Congenital Diaphragmatic	Hcd
Diaphragmatic Defect, Congenital	Diaphragm, Unilateral Agenesis Of
Hemidiaphragm, Agenesis Of	Diaphragmatic Hernia 1
Agenesis Of Hemidiaphragm	Unilateral Agenesis Of Diaphragm
Hernia Diaphragmatic	Hernia Diaphragmatic Congenital
Hernia, Diaphragmatic, Type 1	Hiatus Hernia
Oesophageal Hiatus Hernia	Paraoesophageal Hernia
Sliding Hiatus Hernia	Congenital Diaphragm Hernia
Congenital Diaphragm Defect With Hernia	Gross Congenital Diaphragm Defect

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome	Kartagener Syndrome
Dextrocardia Bronchiectasis And Sinusitis	Pcd
Ciliary Motility Disorders	Ciliary Motility Disorder
Immotile Ciliary Syndrome	Ciliary Dyskinesia Primary
Ics	Polynesian Bronchiectasis
Dextrocardia-Bronchiectasis-Sinusitis Syndrome	Immotile Cilia Syndrome, Kartagener Type
Primary Ciliary Dyskinesia And Situs Inversus	Primary Ciliary Dyskinesia, Kartagener Type
Siewert Syndrome	Dyskinesia, Ciliary, Primary

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-RS00041	ABCA3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ABCA3	VGNC	VGNC:59464
Mus musculus	ABCA3	MGD	MGI:1351617
Canis familiaris	ABCA3	VGNC	VGNC:37426
Macaca mulatta	ABCA3	VGNC	VGNC:69559
Rattus norvegicus	ABCA3	RGD	RGD:1307174
Bos taurus	ABCA3	VGNC	VGNC:50168

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