Gene: MFSD8
Alternate names for this Gene: CCMD|CLN7
Gene 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).
Gene is located in Chromosome: 4
Location in Chromosome : 4q28.2
Description of this Gene: major facilitator superfamily domain containing 8
Type of Gene: protein-coding
rs1043984708 in
MFSD8 gene and
Ceroid Lipofuscinosis, Neuronal, 7
PMID 18850119 2009 A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.
PMID 19277732 2009 Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.
PMID 17564970 2007 The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.
PMID 19201763 2009 Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
PMID 19177532 2009 Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
PMID 22612257 2012 Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
PMID 25439737 2015 Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.
PMID 25976102 2015 The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.
PMID 28708303 2018 Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
rs1602084 in
MFSD8 gene and
Insulin Sensitivity Measurement
PMID 25524916 2015 Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.
rs150418024 in
MFSD8 gene and
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
PMID 25227500 2015 Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
rs267607235 in
MFSD8 gene and
Seizures
PMID 19277732 2009 Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.
PMID 20826447 2010 Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis.
PMID 22668694 2012 Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7.
PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.