Abca12 - ATP-binding cassette, sub-family A (ABC1), member 12 Gene

Mus musculus

Also known as 4832428G11Rik; 4833417A11Rik

Gene ID: 74591 | Gene type: protein coding

About Abca12

Summary

Predicted to enable ATPase-coupled transmembrane transporter activity; Apolipoprotein A-I receptor binding activity; and lipid transporter activity. Involved in several processes, including corneocyte desquamation; positive regulation of intracellular lipid transport; and regulation of Insulin secretion involved in cellular response to glucose stimulus. Acts upstream of or within several processes, including positive regulation of Cholesterol efflux; positive regulation of protein localization to cell surface; and skin development. Located in cytosol. Is expressed in adrenal gland; epidermis; and gland. Used to study autosomal recessive congenital ichthyosis 4B. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 1; autosomal recessive congenital ichthyosis 4A; and autosomal recessive congenital ichthyosis 4B. Orthologous to human ABCA12 (ATP binding cassette subfamily A member 12). [provided by Alliance of Genome Resources, Apr 2022]

Abca12 Products(1)

mRNA	Protein	Name
NM_175210.3	NP_780419.2	glucosylceramide transporter ABCA12

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23931754	MGI

Biological Process GO Annotation	Evidence	Reference	Source
involved in ceramide metabolic process	IMP IMP: Inferred from mutant phenotype	20489143	MGI
acts upstream of or within ceramide transport	IMP IMP: Inferred from mutant phenotype	18957418	MGI
involved in ceramide transport	IMP IMP: Inferred from mutant phenotype	20489143	MGI
acts upstream of cholesterol efflux	IMP IMP: Inferred from mutant phenotype	23931754	MGI
involved in corneocyte desquamation	IMP IMP: Inferred from mutant phenotype	27551807	MGI
acts upstream of establishment of localization in cell	IMP IMP: Inferred from mutant phenotype	23931754	MGI
acts upstream of or within establishment of skin barrier	IMP IMP: Inferred from mutant phenotype	18632686	MGI
involved in establishment of skin barrier	IMP IMP: Inferred from mutant phenotype	20489143	MGI
acts upstream of or within keratinization	IMP IMP: Inferred from mutant phenotype	18632686	MGI
acts upstream of or within keratinocyte differentiation	IMP IMP: Inferred from mutant phenotype	18802465	MGI
acts upstream of or within lipid homeostasis	IMP IMP: Inferred from mutant phenotype	18802465	MGI
NOT acts upstream of or within lung alveolus development	IMP IMP: Inferred from mutant phenotype	18957418	MGI
acts upstream of or within lung alveolus development	IMP IMP: Inferred from mutant phenotype	18632686	MGI
acts upstream of or within positive regulation of cholesterol efflux	IGI IGI: Inferred from genetic interaction	23931754	MGI
acts upstream of or within positive regulation of cholesterol efflux	IMP IMP: Inferred from mutant phenotype	23931754	MGI
involved in positive regulation of intracellular lipid transport	IMP IMP: Inferred from mutant phenotype	27551807	MGI
acts upstream of or within positive regulation of protein localization to cell surface	IMP IMP: Inferred from mutant phenotype	23931754	MGI
involved in regulation of insulin secretion involved in cellular response to glucose stimulus	IMP IMP: Inferred from mutant phenotype	32072744	MGI
involved in regulation of keratinocyte differentiation	IMP IMP: Inferred from mutant phenotype	20489143	MGI
NOT involved in skin morphogenesis	IMP IMP: Inferred from mutant phenotype	27551807	MGI
NOT acts upstream of or within surfactant homeostasis	IMP IMP: Inferred from mutant phenotype	18957418	MGI
acts upstream of or within surfactant homeostasis	IMP IMP: Inferred from mutant phenotype	18632686	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	18632686	MGI

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

Protein Preferred Names

Protein Names

glucosylceramide transporter ABCA12

ATP-binding cassette sub-family A member 12

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00039	ABCA12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Abca12	NCBI	NCBI:26154

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