| Gene Symbol |
MLC1
|
| Entrez Gene |
23209
|
| Alt Symbol |
LVM, MLC, VL
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
megalencephalic leukoencephalopathy with subcortical cysts 1
|
| Other Description |
membrane protein MLC1
|
| Swissprots |
B7Z659 Q5JZ83 B3KW61 Q96RP5 Q15049 Q9UGY8 Q8TAG4
|
| Accessions |
EAW73490 EAW73491 Q15049 AF319633 AAK60119 AK124264 BAG54023 AK294048 BAH11657 AK295106 BAH11975 AK297341 BAH12555 AK299841 BAH13145 BC010518 BC028425 AAH28425 BC070042 AAH70042 BF513319 CB155740 CR456460 CAG30346 CU013011 CAK54442 CU013299 CAK54741 D25217 BAA04947 DA212966 XM_011530678 XP_011528980 XR_430476 NM_015166 NP_055981 NM_139202 NP_631941
|
| Function |
Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx. {ECO:0000269|PubMed:22328087}.
|
| Subcellular Location |
Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:22328087}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:22328087}. Endoplasmic reticulum {ECO:0000269|PubMed:22328087}.
|
| Tissue Specificity |
Expressed in the brain, with highest levels found in the amygdala, nucleus caudatus, thalamus and hippocampus. {ECO:0000269|PubMed:11326298}.
|