| MFSD8 — Major Facilitator Superfamily Domain Containing 8 | |
|---|---|
| Symbol | MFSD8 |
| Full Name | Major Facilitator Superfamily Domain Containing 8 |
| Chromosome | 4q28.2 |
| NCBI Gene | 256471 |
| Ensembl | ENSG00000164073 |
| OMIM | 614964 |
| UniProt | Q8NHC8 |
| Diseases | Neuronal Ceroid Lipofuscinosis Type 7, Late-Infantile Neuronal Ceroid Lipofuscinosis |
| Expression | Brain, Retina, Testis |
| Key Mutations | |
| p.Gly375Wfs*8 p.Leu298Pro |
|
MFSD8 (Major Facilitator Superfamily Domain Containing 8) is a gene located on chromosome 4q28.2 that plays a critical role in neurodegenerative disease. Mutations in MFSD8 are associated with Neuronal Ceroid Lipofuscinosis Type 7, Late-Infantile Neuronal Ceroid Lipofuscinosis. The gene is catalogued as NCBI Gene ID 256471 and OMIM 614964.
The MFSD8 gene encodes a protein that is expressed in multiple brain regions including Brain, Retina, Testis. The normal function of this gene product is essential for neuronal health and survival.
Expression data is available from the Allen Human Brain Atlas.
MFSD8 mutations are linked to the following neurodegenerative conditions:
Page auto-generated from NeuroWiki gene database. Last updated: 2026-02-26.