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2.A.1.2.56
NCL7 or MFSD8. Neuronal ceroid lipofuscinosis, NCL, a neuro-degenerative genetic disease, is caused by mutations in at least 8 different human genes, one of which, CLN7 (MFSD8), is associated with late infantile NCL. CLN7 is localized to lysosomes (Sharifi et al., 2010).  Loss of this putative lysosomal transporter in the brain leads to lysosomal dysfunction, impaired constitutive autophagy and neurodegeneration late in the disease (Brandenstein et al. 2015). An in-frame deletion in the MFSD8 gene gave rise to neuronal ceroid lipofuscinosis type 7 (Hosseini Bereshneh and Garshasbi 2018). In D. discoideum, it interacts with cathepsin D (CtsD), as well as human orthologs of CLN3 (Cln3) and CLN5 (Cln5) (Huber et al. 2020). In humans the defect can also affect cardiac conducting cells and cardiomyocytes as well as basophilic degeneration of myocardium. (Iannaccone Farkašová et al. 2019).  Moreover, loss of Mfsd8 alters the secretome during Dictyostelium aggregation (Huber et al. 2023).

Accession Number:Q8NHS3
Protein Name:Major facilitator superfamily domain-containing protein 8
Length:518
Molecular Weight:57628.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:12
Location1 / Topology2 / Orientation3: Lysosome membrane1 / Multi-pass membrane protein2
Substrate

Cross database links:

Entrez Gene ID: 256471   
Pfam: PF07690   
KEGG: hsa:256471   

Gene Ontology

GO:0016021 C:integral to membrane
GO:0005765 C:lysosomal membrane
GO:0005634 C:nucleus
GO:0008219 P:cell death
GO:0055085 P:transmembrane transport

References (9)

[1] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[2] “Generation and annotation of the DNA sequences of human chromosomes 2 and 4.”  Hillier L.W.et.al.   15815621
[3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[4] “Integral and associated lysosomal membrane proteins.”  Schroeder B.et.al.   17897319
[5] “The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.”  Siintola E.et.al.   17564970
[6] “Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.”  Kousi M.et.al.   19201763
[7] “Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.”  Aiello C.et.al.   19177532
[8] “A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.”  Stogmann E.et.al.   18850119
[9] “Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.”  Kousi M.et.al.   21990111

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Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence 
1:	MAGLRNESEQ EPLLGDTPGS REWDILETEE HYKSRWRSIR ILYLTMFLSS VGFSVVMMSI 
61:	WPYLQKIDPT ADTSFLGWVI ASYSLGQMVA SPIFGLWSNY RPRKEPLIVS ILISVAANCL 
121:	YAYLHIPASH NKYYMLVARG LLGIGAGNVA VVRSYTAGAT SLQERTSSMA NISMCQALGF 
181:	ILGPVFQTCF TFLGEKGVTW DVIKLQINMY TTPVLLSAFL GILNIILILA ILREHRVDDS 
241:	GRQCKSINFE EASTDEAQVP QGNIDQVAVV AINVLFFVTL FIFALFETII TPLTMDMYAW 
301:	TQEQAVLYNG IILAALGVEA VVIFLGVKLL SKKIGERAIL LGGLIVVWVG FFILLPWGNQ 
361:	FPKIQWEDLH NNSIPNTTFG EIIIGLWKSP MEDDNERPTG CSIEQAWCLY TPVIHLAQFL 
421:	TSAVLIGLGY PVCNLMSYTL YSKILGPKPQ GVYMGWLTAS GSGARILGPM FISQVYAHWG 
481:	PRWAFSLVCG IIVLTITLLG VVYKRLIALS VRYGRIQE