Hs02429327_cn

• Gene Symbol: MLC1
• Assay Reference Genome Location: Chr.22:50060023 on build GRCh38
• Cytoband: 22q13.33

Target Gene Details

• Entrez Gene ID: 23209
• Gene Name: megalencephalic leukoencephalopathy with subcortical cysts 1
• Gene Aliases: LVM, MLC, VL
• Location: Chr.22:50059391-50085929 on Build GRCh38
• Assay Gene Location: Within Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MLC1	NM_015166.3	12	3328	NP_055981.1
	NM_139202.2	12	2967	NP_631941.1
	XM_011530678.1	11	2924	XP_011528980.1
	XM_017028671.1	11	2756	XP_016884160.1
	AF319633.1	12	2890	AAK60119.1
	AK124264.1	14	2948
	BC028425.2	12	2927	AAH28425.1
	BC070042.1	12	2925	AAH70042.1
	D25217.3	12	3004

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv471222	Chr.22:50024802 - 50157413 on Build GRCh38	Gain	TTLL8 MOV10L1 MLC1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

transport
ion transport
protein transport
vesicle-mediated transport
positive regulation of intracellular transport
regulation of response to osmotic stress
protein oligomerization
cellular response to cholesterol
caveolin-mediated endocytosis

Function(s)

transporter activity
protein binding
protein transporter activity
protein complex binding