CATSPERT Chromosome 2
Catsper channel auxiliary subunit tau
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What This Gene Does
An autosomal recessive form of juvenile amyotrophic lateral sclerosis was originally mapped to a region of chromosome 2 that includes this gene. The encoded protein contains a calcium-dependent membrane targeting C2 domain. This domain is often found in proteins that are involved in membrane trafficking and signal transduction. [provided by RefSeq, Jun 2016]
Gene Info
Gene Group
"C2 domain containing|CatSpermasome complex"
Locus Type
gene with protein product
Location
2q33.1
Ensembl
ENSG00000155754
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200715227 | Health Risk | Conflicting classifications of pathogenicity | — |