MFSD8 major facilitator superfamily domain containing 8
Gene ID: 256471, updated on 3-Apr-2024Gene type: protein coding
Also known as: CCMD; CLN7
- See all available tests in GTR for this gene
- Go to complete Gene record for MFSD8
- Go to Variation Viewer for MFSD8 variants
Summary
This gene encodes 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. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008]
Associated conditions
Genomic context
- Location:
- 4q28.2
- Sequence:
- Chromosome: 4; NC_000004.12 (127917732..127965963, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MFSD8 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- MFSD8 database
- Neuronal Ceroid Lipofuscinoses; NCL Mutations
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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