Taxon:

Human

Gene:

KCNK9

Chromosome:

08

Location:

8q24.3

Description:

KCNK9 (potassium channel, subfamily K, member 9) is expressed predominantly in the brain. It showed strict or predominant monoallelic expression in 7 heterozygous human fetal brain samples. Maternal expression could be demonstrated in two cases (Ruf D et al, 2007).
Luedi PP et al (2007) found exclusive maternal expression in 9 fetal brains (gestation 63-98 d).
Barel O et al. (2008) described a kindred with maternally inherited mental retardation dysmorphism syndrome (Birk Barel sundrome) caused by a mutation in KCNK9.
In mouse, Kcnk9 is about 260 kb downstream of Peg13 which has a germline maternally-methylated DMR. However, in humans a Peg13 orthologue has not been identified and no DMRs were identified by Ruf et al.
Morcos L et al, (2011) found no evidence of allelic expression bias in lymphoblast and fibroblast cell lines.

Category:

Imprinted genes

Record:

1128

Last Modified 7/15/2012

Links:

Gene  


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