MCOLN3 - mucolipin TRP cation channel 3 Gene

Homo sapiens

Also known as TRPML3; TRP-ML3

Gene ID: 55283 | Gene type: protein coding

About MCOLN3

Cytogenetic location: 1p22.3 Genomic coordinates (GRCh38): 1:85,018,082-85,048,500 (from NCBI)

This gene has 6 transcripts (splice variants), 261 orthologues and 2 paralogues. Biased expression in adrenal (RPKM 27.0), skin (RPKM 3.3) and 5 other tissues.

Summary

This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

MCOLN3 Products(2)

mRNA	Protein	Name
NM_001253693.2	NP_001240622.1	mucolipin-3 isoform 2
NM_018298.11	NP_060768.8	mucolipin-3 isoform 1

MCOLN3 Protein Structure

PKD_channel

0
100
200
300
400
500
553 a.a.

Protein Preferred Names

Protein Names

mucolipin-3

mucolipin 3

Related Diseases

Diseases

Alias

Mucolipidosis Iv

Mucolipidosis Type Iv	ML4
Sialolipidosis	Mucolipidosis Type 4
Ganglioside Sialidase Deficiency	Mliv
Ml Iv	Berman Syndrome
Ganglioside Neuraminidase Deficiency	Ml 4
Mucolipidosis 4	Type Iv Mucolipidosis
Gangliosidoses

Mucolipidosis

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08246	MCOLN3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	MCOLN3	VGNC	VGNC:74505
Bos taurus	MCOLN3	VGNC	VGNC:31320
Mus musculus	MCOLN3	MGD	MGI:1890500
Rattus norvegicus	MCOLN3	RGD	RGD:1308420
Felis catus	MCOLN3	VGNC	VGNC:80277

Name
Email *

	Sorry, but the email address you supplied was invalid.