MFSD8 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human MFSD8 wild-type allele is located in the vicinity of 4q28.2 and is approximately 48 kb in length. This allele, which encodes major facilitator superfamily domain-containing protein 8, plays a role in lysosome activity. Missense mutations in the gene are associated with both macular dystrophy with central cone involvement and late infantile-onset neuronal ceroid lipofuscinosis (vLINCL; neuronal ceroid lipofuscinosis type 7; CLN7 Batten disease).

**Synonyms:** - CCMD - CLN7 - Ceroid-Lipofuscinosis, Neuronal 7, Late Infantile Gene - Ceroid-Lipofuscinosis, Neuronal 7, Late Infantile, Variant Gene - MGC33302 - Major Facilitator Superfamily Domain Containing 8 wt Allele