Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

Table 2 Characterization of the selected genes on 6p22-p24

Gene Symbol	Function^a	Disease Association	References
			MIM	Entrez Gene ID
ATXN1*	RNA and protein binding; transcriptional repressor activity	SCA1 (MIM 164400)	601556	6310
CAP2	Actin binding	UK	N/A	10486
CD83	Immune response; signal transduction	UK	604534	9308
CDKAL1	Metal ion binding	Psoriasis (MIM 177900)	611259	54901
DTNBP1*	Organelle biogenesis; neuronal function	HPS (MIM 203300); schizophrenia (MIM 181500)	607145	84062
E2F3	DNA binding, transcription activator activity, control of cell cycle	UK	600427	1871
FLJ23152	UK (hypothetical protein)	UK	N/A	401236
ID4	Transcription repressor and co-repressor activity	UK	600581	3400
JARID2*	DNA, chromatin, and protein binding; transcription repressor activity; CNS development	UK	601594	3720
MBOAT1	Acetyltransferase activity, phospholipid biosynthesis	Dauwerse-Peters Syndrome (MIM 611733)	611732	154141
NHLRC1*	E3 ubiquitin ligase activity	MELF (MIM 254780)	608072	378884
RBM24	RNA and nucleotide binding	UK	N/A	221662
RNF182	Ubiquitin-protein ligase activity	UK	N/A	221687

^a Based on Gene Ontology Annotation [71].
* Strong candidate genes for autism or autistic features given their role in the brain function or development or involvement in neurological disorders.
CNS, central nervous system; HPS, Hermansky-Pudlak syndrome; MELF, myoclonic epilepsy of Lafora; N/A, not available; SCA1, spinocerebellar ataxia 1; UK, unknown.

ISSN: 1755-8166