Entity Details

Primary name GDAP2
Entity type gene
Source Source Link

Details

PrimaryID54834
RefseqGene
SymbolGDAP2
Nameganglioside induced differentiation associated protein 2
Chromosome1
Location1p12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGDAP2_HUMAN

GO terms

Show/Hide Table
GOName
GO:0005765 lysosomal membrane
GO:0032526 response to retinoic acid

Diseases

Show/Hide Table
Disease IDSourceNameDescription
618369 OMIMSpinocerebellar ataxia, autosomal recessive, 27 (SCAR27)A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR27 is a progressive disease characterized by gait difficulties, eye movement abnormalities, dysarthria, and difficulty writing. Some patients may lose independent ambulation. Additional features include spasticity of the lower limbs and cognitive impairment. The disease is caused by variants affecting the gene represented in this entry.

Interactions

8 interactions