MLC1
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, Jul 2008].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:605908 Ensembl IDEnsembl:ENSG00000100427 HGNC IDHGNC:HGNC:17082 PHARMGKB IDPA38199 Map Location22q13.33 | |||||
Gene Categories:
TRANSPORTERGO terms in MLC1
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005737 | cytoplasm |
| CC | ISS | GO:0005764 | lysosome |
| CC | IDA | GO:0005768 | endosome |
| CC | ISS | GO:0005769 | early endosome |
| CC | IDA | GO:0005783 | endoplasmic reticulum |
| CC | IDA | GO:0005886 | plasma membrane |
Gene expression in normal tissue: MLC1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MLC1
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | ecmpathway | erk and pi-3 kinase are necessary for collagen binding in corneal epithelia |
| biocarta | integrinpathway | integrin signaling pathway |
| biocarta | mcalpainpathway | mcalpain and friends in cell motility |
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Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MLC1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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