Aristaless Related Homeobox Protein (ARX)

ARX; ISSX; MRX29; MRX32; MRX33; MRX36; MRX38; MRX43; MRX54; MRXS1; PRTS; Mental Retardation,X-linked 54

SPN	U527
HGNC	18060
MGI	1097716
PubMed	15614781
RGD	1562672
UniProt	Q96QS3
Wiki	ARX

Aristaless related homeobox, also known as ARX is a protein associated with mental retardation and lissencephaly. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is involved in CNS and pancreas development. This gene is involved in CNS and pancreas development.

Expressed predominantly in fetal and adult brain and skeletal muscle. Expression is specific to the telencephalon and ventral thalamus. There is an absence of expression in the cerebellum throughout development and also in adult.

Reference

"Human ARX gene: genomic characterization and expression."
Mol. Genet. Metab. 77:179-188(2002) [PubMed] [Europe PMC] [Abstract]

"Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation."
Am. J. Med. Genet. 112:405-411(2002) [PubMed] [Europe PMC] [Abstract]

"ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation."
Hum. Mol. Genet. 11:981-991(2002) [PubMed] [Europe PMC] [Abstract]

"Mutations in the human ortholog of aristaless cause X-linked mental retardation and epilepsy."
Nat. Genet. 30:441-445(2002) [PubMed] [Europe PMC] [Abstract]

"Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans."
Nat. Genet. 32:359-369(2002) [PubMed] [Europe PMC] [Abstract]

"Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation."
Hum. Mutat. 23:147-159(2004) [PubMed] [Europe PMC] [Abstract]