01
AFG3L2
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Spinocerebellar Ataxia Type 5
- Standard Disease Name
- spinocerebellar ataxia type 5
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- No data
- OMIM ID
- No data
- UMLS ID
- C3813553
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:Human NOTCH3 wild-type allele is located within 19p13.2-p13.1 and is approximately 41 kb in length. This allele, which encodes neurogenic locus notch homolog protein 3, is involved in both cell-cell signaling and cell differentiation. Mutation of the gene is associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
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