This gene encodes a zinc finger protein of unknown function. It bears similarity to a zinc finger protein which acts as a transcriptional activator. This gene lies in a region of the X chromosome which has been associated with mental retardation. [provided by RefSeq, Jul 2008]
Function:
Transcription regulator required for brain development. Probably acts as a transcription factor that binds to the promoter of target genes and recruits PHF8 histone demethylase, leading to activate expression of genes involved in neuron development, such as KDM5C.
Subcellular Location:
Nucleus.
Tissue Specificity:
Expressed in neural tissues.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE:
Defects in ZNF711 are the cause of mental retardation X-linked ZNF711-related (MRXZ) [MIM:300803]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.
Similarity:
Belongs to the krueppel C2H2-type zinc-finger protein family.
Contains 12 C2H2-type zinc fingers.
SWISS:
Q9Y462
Gene ID:
314990
Database links:
Entrez Gene: 526026 Cow
Entrez Gene: 7552 Human
Entrez Gene: 245595 Mouse
Entrez Gene: 302327 Rat
Omim: 314990 Human
SwissProt: Q9Y462 Human
SwissProt: A2ANX9 Mouse
Unigene: 35361 Human
Unigene: 259846 Mouse
|
|
