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CHMP4B - charged multivesicular body protein 4B
- Synonym(s) : dJ553F4.4, Shax1, SNF7-2, VPS32B
- Previous symbols and names : C20orf178, Chromatin modifying protein 4B, chromatin modifying protein 4B, chromosome 20 open reading frame 178
- Type : gene with protein product
- Chromosomal location : 20q11.22
- OMIM: 610897
- HGNC: 16171
- UniProtKB: Q9H444
- Genatlas: CHMP4B
- GenCC: CHMP4B
- Ensembl: ENSG00000101421
- IUPHAR-DB: -
- Reactome: Q9H444
- LOVD: CHMP4B
Diseases list
- Disease-causing germline mutation(s) in Early-onset posterior polar cataract
ORPHA:98993 
- Disease-causing germline mutation(s) (gain of function) in Early-onset posterior subcapsular cataract
ORPHA:441447
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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