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Mfsd8 - major facilitator superfamily domain containing 8 Gene

Also Known as Cln7; 2810423E13Rik

Species: Mus musculus

Gene Type: protein coding

Gene ID: 72175

Summary

Predicted to enable transmembrane transporter activity. Acts upstream of or within several processes, including TORC1 signaling; autophagosome maturation; and regulation of cellular catabolic process. Located in lysosome and membrane. Is expressed in several structures, including brain; cardiovascular system; genitourinary system; gut; and respiratory system. Used to study neuronal ceroid lipofuscinosis 7. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 7. Orthologous to human MFSD8 (major facilitator superfamily domain containing 8). [provided by Alliance of Genome Resources, Apr 2022]

Mfsd8 Products (1)

mRNA	Protein	Name
NM_028140.5	NP_082416.2	major facilitator superfamily domain-containing protein 8

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables chloride channel activity	IMP IMP: Inferred from mutant phenotype	34910516	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within TORC1 signaling	IMP IMP: Inferred from mutant phenotype	29514215	MGI
acts upstream of or within apoptotic process	IMP IMP: Inferred from mutant phenotype	35087090	MGI
acts upstream of or within astrocyte differentiation	IMP IMP: Inferred from mutant phenotype	27654426	MGI
acts upstream of or within autophagosome maturation	IMP IMP: Inferred from mutant phenotype	29514215	MGI
acts upstream of or within autophagy	IMP IMP: Inferred from mutant phenotype	35087090	MGI
acts upstream of or within cellular respiration	IMP IMP: Inferred from mutant phenotype	35087090	MGI
acts upstream of or within determination of adult lifespan	IDA IDA: Inferred from direct assay	35025759	MGI
acts upstream of or within determination of adult lifespan	IMP IMP: Inferred from mutant phenotype	35025759	MGI
acts upstream of or within gene expression	IDA IDA: Inferred from direct assay	35025759	MGI
acts upstream of or within gene expression	IMP IMP: Inferred from mutant phenotype	27654426	MGI
acts upstream of or within gliogenesis	IMP IMP: Inferred from mutant phenotype	27654426	MGI
acts upstream of or within glycolipid metabolic process	IMP IMP: Inferred from mutant phenotype	27654426	MGI
acts upstream of or within glycolytic process	IMP IMP: Inferred from mutant phenotype	35087090	MGI
acts upstream of or within glycoprotein metabolic process	IMP IMP: Inferred from mutant phenotype	27654426	MGI
acts upstream of or within inclusion body assembly	IMP IMP: Inferred from mutant phenotype	27654426	MGI
acts upstream of or within lysosomal protein catabolic process	IMP IMP: Inferred from mutant phenotype	27654426	MGI
acts upstream of or within lysosome organization	IDA IDA: Inferred from direct assay	35025759	MGI
acts upstream of or within lysosome organization	IMP IMP: Inferred from mutant phenotype	24423645	MGI
acts upstream of or within maintenance of location	IMP IMP: Inferred from mutant phenotype	27654426	MGI
acts upstream of or within microglia differentiation	IMP IMP: Inferred from mutant phenotype	27654426	MGI
acts upstream of or within mitochondrion organization	IMP IMP: Inferred from mutant phenotype	35087090	MGI
acts upstream of or within motor behavior	IDA IDA: Inferred from direct assay	35025759	MGI
acts upstream of or within motor behavior	IMP IMP: Inferred from mutant phenotype	35025759	MGI
acts upstream of or within multicellular organism growth	IDA IDA: Inferred from direct assay	35025759	MGI
acts upstream of or within multicellular organism growth	IMP IMP: Inferred from mutant phenotype	35025759	MGI
acts upstream of or within negative regulation of neuron apoptotic process	IMP IMP: Inferred from mutant phenotype	27654426	MGI
acts upstream of or within neuromuscular process	IDA IDA: Inferred from direct assay	35025759	MGI
acts upstream of or within neuromuscular process	IMP IMP: Inferred from mutant phenotype	35025759	MGI
acts upstream of or within neuron apoptotic process	IMP IMP: Inferred from mutant phenotype	27654426	MGI
acts upstream of or within neuron development	IMP IMP: Inferred from mutant phenotype	26681805	MGI
acts upstream of or within protein stabilization	IMP IMP: Inferred from mutant phenotype	35087090	MGI
acts upstream of or within reactive oxygen species metabolic process	IMP IMP: Inferred from mutant phenotype	35087090	MGI
acts upstream of or within regulation of autophagy	IMP IMP: Inferred from mutant phenotype	26681805	MGI
acts upstream of or within regulation of catalytic activity	IMP IMP: Inferred from mutant phenotype	35087090	MGI
acts upstream of or within regulation of lysosomal protein catabolic process	IMP IMP: Inferred from mutant phenotype	29514215	MGI
acts upstream of or within retina development in camera-type eye	IMP IMP: Inferred from mutant phenotype	27654426	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in lysosome	IDA IDA: Inferred from direct assay	20826447	MGI
located in membrane	IDA IDA: Inferred from direct assay	26681805	MGI
is active in mitochondrion	IMP IMP: Inferred from mutant phenotype	35087090	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
major facilitator superfamily domain-containing protein 8

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08394	MFSD8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Mfsd8	NCBI	NCBI:256471