Gene Symbol | ARX |
Entrez Gene ID | 170302 |
Full Name | aristaless related homeobox |
Synonyms | CT121,EIEE1,ISSX,MRX29,MRX32,MRX33,MRX36,MRX38,MRX43,MRX54,MRX76,MRX87,MRXS1,PRTS |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene is a homeobox-containing gene expressed during development. 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 thought to be involved in CNS development. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy. [provided by RefSeq, Jul 2016]. |
Disorder MIM: | |
Disorder Html: | Epileptic encephalopathy, early infantile, 1, 308350 (3); Lissencephaly, X-linked 2, 300215 (3); Mental retardation, X-linked 29 and others, 300419 (3); Proud syndrome, 300004 (3); Partington syndrome, 309510 (3); Hydranencephaly with abnormal genitalia, 300215 (3) |