TBATA Chromosome 10

Thymus, brain and testes associated
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a protein that regulates thymic epithelial cell proliferation and thymus size. It has been identified as a ligand for the class I human leukocyte antigen (HLA-I) in thymus. Studies of the orthologous mouse protein suggest that it may also play a role in spermatid differentiation, as well as in neuronal morphogenesis and synaptic plasticity. Polymorphisms in this gene are associated with susceptibility for multiple sclerosis (MS). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Associated Conditions (3)
Hirschsprung disease
susceptibility to
1
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS759944122 Health Risk Likely pathogenic Hirschsprung disease, susceptibility to, 1
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