CWF19L1 gene

CWF19-like 1, cell cycle control (S. pombe)

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

From NCBI Gene:

  • Spinocerebellar ataxia, autosomal recessive 17

From UniProt:

Spinocerebellar ataxia, autosomal recessive, 17 (SCAR17): Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR17 features include non-progressive congenital cerebellar ataxia, mildly delayed walking with an unsteady gait and frequent falls, dysarthria, dysmetria, hypotonia in the extremities, truncal ataxia, increased reflexes in the lower extremities, and intellectual disability. [MIM:616127]

Cytogenetic Location: 10q24.31, which is the long (q) arm of chromosome 10 at position 24.31

Molecular Location: base pairs 100,232,296 to 100,267,681 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q24.31, which is the long (q) arm of chromosome 10 at position 24.31
  • C19L1
  • hDrn1
  • SCAR17