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FB2026_01
,
released March 12, 2026
Based on biallelic mutations mapped in two unrelated patients diagnosed with spinocerebellar ataxia, the human gene GDAP2 is postulated to be implicated in a new autosomal recessive subtype of this disease. GDAP2 encodes ganglioside-induced differentiation-associated protein 2; very little is known about the function of this gene. There is a single orthologous gene in Drosophila, Dmel\Gdap2, for which RNAi targeting constructs and alleles caused by insertional mutagenesis have been generated.
The human GDAP2 gene has not been introduced into flies.
Results in Drosophila support the hypothesis that GDAP2 is implicated in this form of spinocerebellar ataxia. Ubiquitous knockdown of Dmel\Gdap2, effected by RNAi, results in shortened lifespan, multiple locomotor defects, and increased sensitivity to stressors such as reactive oxygen species and nutrient deprivation.
[updated Jan. 2019 by FlyBase; FBrf0222196]
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years (Palau and Espinos, 2006; pubmed:17112370).
The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. [from Gene Reviews, Hereditary Ataxia Overview; pubmed:20301317; 2017.06.16]
See also Jayadev and Bird, 2013 (pubmed:23538602).
Autosomal recessive spinocerebellar ataxia is a neurologic disorder characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life (summary, Dy et al, 2105; pubmed:26224725). [from MIM:609270; 2020.07.13]
[SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27; SCAR27](https://omim.org/entry/618369)
[GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 2; GDAP2](https://omim.org/entry/618128)
Two unrelated patients with autosomal recessive cerebellar ataxia were shown to have biallelic, gene-disruptive mutations in GDAP2 (Eidhof et al., 2018; pubmed:30084953; FBrf0239909),
GDAP2 contains a CRAL-TRIO lipid-binding domain and an ADP-ribose-binding macro domain (UniProt:Q9NXN4).
Gangliosides, sialic acid-containing glycosphingolipids, are abundant in brain tissue. [from MIM:618128; 2019.01.02]
One to one: 1 human to 1 Drosophila; additional low-scoring orthologs in human.
High-scoring ortholog of human GDAP2 (1 Drosophila to 1 human); additional low-scoring orthologs in human. Dmel\Gdap2 shares 40% identity and 60% similarity with human GDAP2.