MLC1 - modulator of VRAC current 1 Gene

Homo sapiens

Also known as VL; LVM; MLC

Gene ID: 23209 | Gene type: protein coding

About MLC1

Cytogenetic location: 22q13.33 Genomic coordinates (GRCh38): 22:50,059,391-50,085,875 (from NCBI)

This gene has 5 transcripts (splice variants), 189 orthologues and is associated with 3 phenotypes. Biased expression in brain (RPKM 57.6) and bone marrow (RPKM 11.2).

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]

MLC1 Products(15)

mRNA	Protein	Name
NM_001376472.1	NP_001363401.1	membrane protein MLC1 isoform 1
NM_001376473.1	NP_001363402.1	membrane protein MLC1 isoform 1
NM_001376474.1	NP_001363403.1	membrane protein MLC1 isoform 1
NM_001376475.1	NP_001363404.1	membrane protein MLC1 isoform 1
NM_001376476.1	NP_001363405.1	membrane protein MLC1 isoform 1
NM_001376477.1	NP_001363406.1	membrane protein MLC1 isoform 1
NM_001376478.1	NP_001363407.1	membrane protein MLC1 isoform 1
NM_001376479.1	NP_001363408.1	membrane protein MLC1 isoform 2
NM_001376480.1	NP_001363409.1	membrane protein MLC1 isoform 3
NM_001376481.1	NP_001363410.1	membrane protein MLC1 isoform 4
NM_001376482.1	NP_001363411.1	membrane protein MLC1 isoform 5
NM_001376483.1	NP_001363412.1	membrane protein MLC1 isoform 5
NM_001376484.1	NP_001363413.1	membrane protein MLC1 isoform 6
NM_015166.4	NP_055981.1	membrane protein MLC1 isoform 1
NM_139202.3	NP_631941.1	membrane protein MLC1 isoform 1

Protein Preferred Names

Protein Names

membrane protein MLC1

megalencephalic leukoencephalopathy with subcortical cysts 1

Related Diseases

Diseases

Alias

Megalencephalic Leukoencephalopathy With Subcortical Cysts 1

Van Der Knaap Disease	Leukoencephalopathy With Swelling And Cysts
MLC1	Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts
Lvm	Vl
Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 1	Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 1
Megalencephalic Leukoencephalopathy With Subcortical Cysts

Megalencephalic Leukoencephalopathy With Subcortical Cysts

Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts	Mlc
Van Der Knaap Disease	Lvm
Leukoencephalopathy With Swelling And Cysts	Megalencephaly-Cystic Leukodystrophy
Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome	Infantile Leukoencephalopathy And Megalencephaly
Leukoencephalopathy With Swelling And A Discrepantly Mild Course	Vacuolating Leukoencephalopathy
Megalencephalic Leukodystrophy	Megalencephaly-Cystic Leukodystrophy Syndrome
Van Der Knaap Syndrome	Leukoencephalopathy, Megalencephalic, With Subcortical Cysts

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Leukodystrophy

Leukodystrophies

Polycystic Liver Disease 1 With Or Without Kidney Cysts

Polycystic Liver Disease 1	PCLD1
Cyst	Liver Disease, Polycystic, Type 1
Polycystic Liver Disease

Megalencephaly

Macroencephaly

Macrencephaly

Bladder Neck Obstruction

Obstruction Of Bladder Neck Or Vesicourethral Orifice	Urinary Bladder Neck Obstruction
Bladder Outlet Obstruction	Vesicourethral Orifice Obstruction
Bno - [Bladder Neck Obstruction]	Bladder Obstruction Nos
Acquired Bladder Neck Obstruction	Acquired Obstruction Of Bladder Neck Or Vesicourethral Orifice
Bladder Neck Strangulation	Bladder Neck Stricture
Bladder Outflow Obstruction	Contracture Of Bladder Neck Or Sphincter
Contracture Of Bladder Neck	Obstructed Vesicourethral Orifice
Strangulation Of Vesicourethral Orifice	Stricture Of Vesicourethral Orifice
Urinary Prostatic Valve Obstruction	Vesical Obstruction

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08485	MLC1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	MLC1	VGNC	VGNC:74787
Bos taurus	MLC1	VGNC	VGNC:31495
Mus musculus	MLC1	MGD	MGI:2157910
Canis familiaris	MLC1	VGNC	VGNC:43255
Rattus norvegicus	MLC1	RGD	RGD:1308552