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Description for Protein MLC1

megalencephalic leukoencephalopathy with subcortical cysts 1
3 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/1)
(membrane: 1; undefined: 1)
Summary:
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] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Megalencephalic leukoencephalopathy with subcortical cysts 1; LVM; MLC; WKL1; Megalencephalic leukoencephalopathy with subcortical cysts 1 gene product; KIAA0027
    Approved Symbol:
    MLC1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Megalencephalic leukoencephalopathy with subcortical cysts(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 7
  • Isoform 1 : 7
    • Additional Identifiers:

    HPRD: 05800 Entrez Gene ID: 23209 OMIM ID: 605908 Swissprot Accession: Q15049;