rs1555962581
This variant is located in the MLC1 gene.
▶ClinVar annotation
Megalencephalic leukoencephalopathy with subcortical cysts 1
View on ClinVar →▶Research that mentions this SNP (1)
▶Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cystsCase reportN=30Leegwater PA et al.(2002)· Human Genetics
This study identified 14 novel MLC1 gene mutations in 18 patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC), a rare autosomal recessive neurological disorder. Three mutations disrupted the open reading frame, while 11 were missense mutations conserved between human and mouse. Two polymorphisms were identified: C171F (12.5% frequency in controls) and a complex N344S-linked polymorphic rearrangement. Mutations predominantly affected transmembrane domains, whereas polymorphisms did not, suggesting critical functional importance of transmembrane regions.
About MLC1
The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
View all MLC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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