SS18L1 Chromosome 20
SS18L1 subunit of BAF chromatin remodeling complex
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What This Gene Does
This gene encodes a calcium-responsive transactivator which is an essential subunit of a neuron-specific chromatin-remodeling complex. The structure of this gene is similar to that of the SS18 gene. Mutations in this gene are involved in amyotrophic lateral sclerosis (ALS). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
Gene Info
Gene Group
BAF complex subunits
Locus Type
gene with protein product
Location
20q13.33
Ensembl
ENSG00000184402
Associated Conditions (2)
Amyotrophic lateral sclerosis
SS18L1-related disorder
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS36106901 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis, SS18L1-related disorder, Amyotrophic lateral sclerosis |