Mucolipin 1 Products

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	288371 Rat 57192 Human 94178 Mouse
Uniprot	NM_020533 Human NP_065394.1 Human Q99J21 Mouse Q9GZU1 Human
Product By Gene ID	57192
Alternate Names	MG-2 ML4TRP-ML1 MLIV MST080 MSTP080 mucolipidin Mucolipidin mucolipidosis type IV protein mucolipin 1 mucolipin-1 TRPML1 TRP-ML1 TRPM-L1

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

Related Mucolipin 1 Blog Posts

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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.

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