Symbol: Name: ID: |
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 GFS:6176 |
Gene name: | MLC1 |
Chromosome: | 22q13.33 |
Previous Symbols: | |
Previous Names: | |
Aliases: | MLC, KIAA0027, LVM, VL |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2157910 | Rat Genome Database ID: | RGD:1308552 |
HGNC ID: | HGNC:17082 | RefSeq IDs: | NM_015166 |
Entrez Gene ID: | 23209 | Ensembl Gene ID: | ENSG00000100427 |
VEGA IDs: | OTTHUMG00000150236 | UniProt ID: | Q15049 |
UCSC ID: | uc003bjg.1 | OMIM ID: | 605908 |
Pubmed: | PMID7584026 PMID 7584028 | ||
CCDS IDs: | CCDSCCDS14083.1 |
Membrane protein MLC1 is a protein that in humans is encoded by the MLC1 gene.
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].
Function: May be a transporter. May act as a non-selective neuronal cation channel.
Products for MLC1 gene
Catalog | Product Name | Application | Company |
GFS:E06176 | megalencephalic leukoencephalopathy with subcortical cysts 1; ELISA kit | ELISA | n/a |
GFS:A06176 | megalencephalic leukoencephalopathy with subcortical cysts 1; Anti | ANTIBODIES | n/a |
GFS:P06176 | megalencephalic leukoencephalopathy with subcortical cysts 1; Protien | Protien | n/a |