CLC (Charcot-Leyden Crystal Galectin)

A galectin protein with lysophospholipase activity, primarily expressed in eosinophils and basophils, associated with allergic inflammation and eosinophilic disorders.

Gene Information Card

Symbol CLC
Full Name Charcot-Leyden Crystal Galectin
Gene Type protein-coding
Chromosomal Location 19q13.2
NCBI Gene ID 1178 ncbi.nlm.nih.gov/gene/1178
Ensembl ID ENSG00000105205
UniProt ID Q05315
OMIM ID 153310
HGNC ID 2014
Aliases LGALS10, galectin-10, Charcot-Leyden crystal protein, lysophospholipase

Description

The CLC gene encodes the Charcot-Leyden crystal protein, also known as galectin-10. This protein is a member of the galectin family and possesses lysophospholipase activity. It is predominantly expressed in eosinophils and basophils and forms characteristic hexagonal bipyramidal crystals (Charcot-Leyden crystals) in tissues and secretions associated with allergic inflammation and eosinophilic disorders. The protein is involved in immune modulation, cell migration, and inflammatory responses.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Eosinophilic esophagitis CLC protein forms Charcot-Leyden crystals in esophageal tissue, contributing to inflammation and tissue damage ClinVar, literature
Eosinophilic asthma CLC expression elevated in sputum and bronchial biopsies; crystals associated with airway inflammation NCBI Gene, literature
Hypereosinophilic syndrome CLC overexpression and crystal deposition in multiple organs OMIM, literature
Allergic rhinitis CLC detected in nasal secretions as crystals, linked to eosinophilic inflammation UniProt, literature

Expression Profile

Tissue Expression
Tissue nTPM level
Bone marrow 12.5 Medium
Spleen 8.2 Low
Lung 6.7 Low
Small intestine 5.1 Low
Blood (leukocytes) 4.3 Low
Cell Line Expression
Cell Line nTPM Notes
Eosinophils (primary) High Major source of CLC expression
Basophils (primary) Moderate Second major cell type
HL-60 (promyeloblast) Low Differentiation-dependent expression
K-562 (erythroleukemia) Not detected No significant expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) Missense Rare Potential loss of start codon; functional impact unknown
c.124G>A (p.Gly42Ser) Missense Rare Unknown effect on lysophospholipase activity
c.337C>T (p.Arg113Trp) Missense Rare Reported in ClinVar; uncertain significance
Mutation functional classification

Loss of Function (LOF)

No well-characterized loss-of-function mutations reported in CLC.

Gain of Function (GOF)

No gain-of-function mutations described.

Dominant Negative (DN)

No dominant-negative mutations known.

Pathways

• Galectin pathway (Reactome: R-HSA-5621481)
• Eosinophil degranulation (Reactome: R-HSA-6798695)

Protein Summary

The Charcot-Leyden crystal protein (galectin-10) is a 17.5 kDa protein with lysophospholipase activity. It forms hexagonal bipyramidal crystals in eosinophil-rich environments. The protein is involved in immune modulation, cell adhesion, and inflammatory signaling. Its crystal formation is a hallmark of eosinophilic inflammation in diseases such as asthma, eosinophilic esophagitis, and hypereosinophilic syndrome.

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