CLRN2 Chromosome 4
Clarin 2
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What This Gene Does
This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Clarins
Locus Type
gene with protein product
Location
4p15.32
Ensembl
ENSG00000249581
Associated Conditions (2)
Hearing loss
autosomal recessive 117
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1711990645 | Health Risk | Pathogenic | Hearing loss, autosomal recessive 117, Hearing loss |