Mucolipin 1 Products

Antibodies
Mucolipin 1 Antibody
Mucolipin 1 Antibody
H00057192-B01P
Species: Hu
Applications: WB, ELISA
Host: Mouse Polyclonal
Mucolipin 1 Antibody
Mucolipin 1 Antibody
NBP1-92152
Species: Hu, Mu, Rt
Applications: WB, ICC/IF, IHC, IHC-P
Host: Rabbit Polyclonal
Lysates
Mucolipin 1 Overexpression Ly ...
Mucolipin 1 Overexpression Lysate ...
H00057192-T01
Species: Hu
Applications: WB
Mucolipin 1 Overexpression Ly ...
Mucolipin 1 Overexpression Lysate ...
NBL1-12958
Applications: WB
Proteins
Mucolipin 1 Peptide
Mucolipin 1 Peptide
NB110-82375PEP
Species: Mu
Recombinant Human Mucolipin 1 ...
Recombinant Human Mucolipin 1 Protein
H00057192-P01
Species: Hu
Applications: WB, ELISA, PA
Mucolipin 1 Recombinant Prote ...
Mucolipin 1 Recombinant Protein An...
NBP1-92152PEP
Species: Hu
Applications: AC
RNAi
Mucolipin 1 RNAi
Mucolipin 1 RNAi
H00057192-R01
Species: Hu
Applications: RNAi, RNAi SP

Description

Mucolipin-1 (MCOLN1) is a 65kDa member of the TRPML channel family, which is a subgroup of the large protein family of TRP ion channels. Mucolipin 1 is thought to channel iron ions across the endosome/lysosome membrane into the cell, so defective MCOLN1 may cause cellular iron deficiency.

Defects in MCOLN1 are known to cause mucolipidosis type IV (MLIV), also known as sialolipidosis. MLIV is an autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels.

Bioinformatics

Entrez Human
Mouse
Rat
Uniprot Human
Human
Human
Mouse
Product By Gene ID 57192
Alternate Names
  • TRP-ML1
  • MG-2
  • Mucolipidin
  • TRPML1
  • mucolipin-1
  • TRPM-L1
  • mucolipidosis type IV protein
  • MST080
  • mucolipidin
  • MLIV
  • ML4TRP-ML1
  • MSTP080
  • mucolipin 1

Research Areas for Mucolipin 1

Find related products by research area and learn more about each of the different research areas below.

Cell Biology
Neuroscience
Sensory Systems
Signal Transduction
Vision

PTMs for Mucolipin 1

Learn more about PTMs related to Mucolipin 1.

Cleavage
Palmitoylation
Phosphorylation
Dephosphorylation
Ubiquitination

Bioinformatics Tool for Mucolipin 1

Discover related pathways, diseases and genes to Mucolipin 1. Need help? Read the Bioinformatics Tool Guide for instructions on using this tool.
 
Vizit™, under license from BioVista Inc.

Related Mucolipin 1 Blog Posts

Check out the latest blog posts on Mucolipin 1.
Vision Infographic: Do you see how I see?
Vision involves several parts of the eye processing light which send signals to the brain via the optic nerve to process information. Learn more about the vision process and related ocular proteins in the infographic below. Novus Biological...    Read more.
Read more Mucolipin 1 related blogs.