MFSD8
MIM.611124 4q28.1-q28.2
MFSD8 encodes a putative lysosomal transporter (#17564970#).
Pathology
germline mutations of MFSD8 in late infantile-onset neuronal ceroid lipofuscinosis type 7 (CLN7) (MIM.610951)
See also
lysosomal transporter
References
Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet. 2007 Jul;81(1):136-46. PMID: #17564970#