MFSD8

MFSD8
Identifiers
Aliases MFSD8, CLN7, CCMD, major facilitator superfamily domain containing 8
External IDs MGI: 1919425 HomoloGene: 115814 GeneCards: MFSD8
Orthologs
Species Human Mouse
Entrez

256471

72175

Ensembl

ENSG00000164073

ENSMUSG00000025759

UniProt

Q8NHS3

Q8BH31

RefSeq (mRNA)

NM_152778

NM_028140

RefSeq (protein)

NP_689991.1

NP_082416.2

Location (UCSC) Chr 4: 127.92 – 127.97 Mb Chr 3: 40.82 – 40.85 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Major facilitator superfamily domain containing 8 also known as MFSD8 is a protein that in humans is encoded by the MFSD8 gene.[3]

Function

MFSD8 is a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes.[4]

Clinical significance

Mutations in the MFSD8 gene have been associated with neuronal ceroid lipofuscinosis.[5]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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 1950917Freely accessible. PMID 17564970.
  4. "Entrez Gene: MFSD8".
  5. Stogmann E, El Tawil S, Wagenstaller J, et al. (February 2009). "A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis". Neurogenetics. 10 (1): 73–7. doi:10.1007/s10048-008-0153-1. PMID 18850119.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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