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FLASH GENE

Symbol

MFSD8

contributors: mct - updated : 21-04-2011

HGNC name	major facilitator superfamily domain containing 8
HGNC id	28486

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CLN7 ceroid-lipofuscinosis, neuronal, 7
Location	4q28.2      Physical location : 128.838.960 - 128.887.139
Synonym name	ceroid-lipofuscinosis, neuronal 7, late infantile
Synonym symbol(s)	CLN7, MGC33302

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	45.50 kb     13 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_152778 13 - 4562 57.5 518 - 2007 17564970

EXPRESSION

Rna function	mRNA is 5-fold more abundant in hippocampus than midbrain, cerebellum or striatum, while cerebral cortices showed an intermediate level (
Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth       highly Endocrine neuroendocrine pituitary     highly Hearing/Equilibrium ear inner cochlea   highly Nervous brain limbic system hippocampus     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	several cytoplasmic lysosomal targeting signals of which the N-terminal dileucine-based motif is required for the predominant lysosomal targeting along the indirect pathway and clathrin-mediated endocytosis of CLN7 (
	12 predicted transmembrane domains
	an MFS domain (MFS_1)
	a sugar transporter domain (Sugar_tr)
	C-terminal tyrosine-based motifs play a minor role in CLN7 targeting

HOMOLOGY

interspecies

homolog to murine Mfsd8 (81.7 pc)

Homologene

FAMILY

major facilitator superfamily (MFS) of transporter proteins

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
text	multi-pass membrane protein
	localizes to lysosomes and late endosomes (
	20826447)

basic FUNCTION	may be a carrier that transport small solutes by using chemiosmotic ion gradients
	polytopic lysosomal membrane protein

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CLN7

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS