MFSD8 information

MFSD8
Identifiers
Aliases	MFSD8, CLN7, CCMD, major facilitator superfamily domain containing 8
External IDs	OMIM: 611124; MGI: 1919425; HomoloGene: 115814; GeneCards: MFSD8; OMA:MFSD8 - orthologs
Gene location (Human)
Chr.	Chromosome 4 (human)
End	127,966,034 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	40,846,886 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; body of pancreas; ; bone marrow cells; ; cerebellar hemisphere; ; sural nerve; ; pancreatic epithelial cell; ; monocyte; ; anterior pituitary; ; gastric mucosa; ; endothelial cell;
	Top expressed in
	white adipose tissue; ; quadriceps femoris muscle; ; muscle tissue; ; skeletal muscle tissue; ; liver; ; ganglionic eminence; ; jejunum; ; ileum; ; spermatocyte; ; zone of skin;
	More reference expression data
	n/a
Orthologs
	256471
	72175
	ENSG00000164073
	ENSMUSG00000025759
	Q8NHS3
	Q8BH31
NM_152778; NM_001363520; NM_001363521; NM_001371590; NM_001371591;
	NM_001371592; NM_001371593; NM_001371594; NM_001371595; NM_001371596
	NM_028140
NP_689991; NP_001350449; NP_001350450; NP_001358519; NP_001358520;
	NP_001358521; NP_001358522; NP_001358523; NP_001358524; NP_001358525
	NP_082416
	Wikidata
View/Edit Human	View/Edit Mouse

Major facilitator superfamily domain containing 8 also called MFSD8 is a protein that in humans is encoded by the MFSD8 gene.^[5] MFSD8 is an atypical SLC,^[6]^[7] thus a predicted SLC transporter. It clusters phylogenetically to the Atypical MFS Transporter family 2 (AMTF2).^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000164073 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000025759 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE (July 2007). "The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter". Am. J. Hum. Genet. 81 (1): 136–46. doi:10.1086/518902. PMC 1950917. PMID 17564970.
^ Perland, Emelie; Fredriksson, Robert (March 2017). "Classification Systems of Secondary Active Transporters". Trends in Pharmacological Sciences. 38 (3): 305–315. doi:10.1016/j.tips.2016.11.008. ISSN 1873-3735. PMID 27939446.
^ ^a ^b Perland, Emelie; Bagchi, Sonchita; Klaesson, Axel; Fredriksson, Robert (September 2017). "Characteristics of 29 novel atypical solute carriers of major facilitator superfamily type: evolutionary conservation, predicted structure and neuronal co-expression". Open Biology. 7 (9): 170142. doi:10.1098/rsob.170142. ISSN 2046-2441. PMC 5627054. PMID 28878041.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000164073 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000025759 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid17564970-5] Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE (July 2007). "The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter". Am. J. Hum. Genet. 81 (1): 136–46. doi:10.1086/518902. PMC 1950917. PMID 17564970.

[6] Perland, Emelie; Fredriksson, Robert (March 2017). "Classification Systems of Secondary Active Transporters". Trends in Pharmacological Sciences. 38 (3): 305–315. doi:10.1016/j.tips.2016.11.008. ISSN 1873-3735. PMID 27939446.

[:0-7] Perland, Emelie; Bagchi, Sonchita; Klaesson, Axel; Fredriksson, Robert (September 2017). "Characteristics of 29 novel atypical solute carriers of major facilitator superfamily type: evolutionary conservation, predicted structure and neuronal co-expression". Open Biology. 7 (9): 170142. doi:10.1098/rsob.170142. ISSN 2046-2441. PMC 5627054. PMID 28878041.

MFSD8 information

and 8 Related for: MFSD8 information

MFSD8

Batten disease

Neuronal ceroid lipofuscinosis

Major facilitator superfamily

Atypical SLCs

Solute carrier family

PPT1

List of OMIM disorder codes