MLC1 (modulator of VRAC current 1)

2014-11-01  

Identity

HGNC
LOCATION
22q13.33
LOCUSID
ALIAS
LVM,MLC,VL
FUSION GENES

Other Information

Locus ID:

NCBI: 23209
MIM: 605908
HGNC: 17082
Ensembl: ENSG00000100427

Variants:

dbSNP: 23209
ClinVar: 23209
TCGA: ENSG00000100427
COSMIC: MLC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100427ENST00000311597Q15049
ENSG00000100427ENST00000311597A0A024R4V4
ENSG00000100427ENST00000395876Q15049
ENSG00000100427ENST00000395876A0A024R4V4
ENSG00000100427ENST00000442311A6PVC3

Expression (GTEx)

0
50
100
150
200

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
121492732002Physical and functional interaction between myeloid cell leukemia 1 protein (MCL1) and Fortilin. The potential role of MCL1 as a fortilin chaperone.45
216249732011Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts.21
166523342006Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.20
214406272011Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model.19
223280872012Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.18
209264522011The beta1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis.16
119353412002Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.15
129394312003Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.14
150376852004Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation.14
199316152010MLC1 trafficking and membrane expression in astrocytes: role of caveolin-1 and phosphorylation.14

Citation

Dessen P

MLC1 (modulator of VRAC current 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70337/mlc1