From: The systematic functional characterisation of Xq28 genes prioritises candidate disease genes
Gene | cb | hc | ob | pc | Intracellular localisation | Hs | Mm | Rn | Xt | Gg | Dr | Fr | Dm | Ce | Sc | Ag | Pf | Potential function |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
known mental retardation genes | ||||||||||||||||||
SLC6A8 | X | X | X | Â | n.a. | X | X | X | X | Â | X | X | Â | Â | Â | Â | Â | creatin transporter |
MECP2 | X | X | X | Â | nucleus | X | X | X | X | Â | X | X | Â | Â | Â | Â | Â | methyl CpG-binding protein, regulator of gene expression |
GDI | X | X | X | Â | cytoplasm | X | X | X | X | Â | X | X | X | X | X | X | Â | RabGDP-dissociation inhibitor involved in synaptic vesicle fusion, neuronal morphogenesis |
NDP | X | X | X | Â | n.a. | X | X | X | Â | X | X | Â | Â | Â | Â | Â | Â | growth factor |
FMR2 | X | X | Â | Â | n.a. | X | X | X | X | X | X | Â | Â | Â | Â | Â | Â | Â |
L1CAM | Â | X | X | Â | n.a. | X | X | X | X | X | Â | Â | Â | Â | Â | Â | Â | integral membrane glycoprotein |
novel candidates for mental retardation | ||||||||||||||||||
ATP6AP1 | X | X | X | X | endoplasmic reticulum | X | X | X | X | X | X | X | Â | Â | Â | Â | Â | subunit of a vacuolar H-ATPase |
HCFC1 | X | X | X | Â | nucleus* | X | X | Â | X | Â | X | X | X | Â | Â | X | Â | transcription factor |
IDH3G | X | X | X | Â | mitochondria | X | X | X | X | Â | X | X | X | X | X | X | Â | NAD(+)-dependent isocitrate dehydrogenase |
CD99L2 | X | X | X | Â | centrosomes | X | X | X | X | Â | X | X | Â | Â | Â | Â | Â | unknown function |
FAM11A | X | Â | Â | Â | endoplasmic reticulum | X | X | X | X | X | X | Â | Â | X | Â | Â | Â | unknown function |
HCBP6 | X | Â | Â | Â | mitochondria | X | X | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | unknown function |
BCAP31 | X | Â | Â | Â | endoplasmic reticulum | X | X | X | Â | Â | X | Â | X | X | X | X | Â | regulator of the turnover of endoplasmic reticulum-associated protein tyrosine phosphatase-like B (Yeast) |
IRAK1 | Â | X | Â | X | n.a. | X | X | Â | X | Â | Â | X | X | X | Â | X | Â | serine/threonine kinase |
RPL10 | Â | X | Â | Â | nucleus-nucleolus | X | X | X | X | Â | X | X | X | X | X | X | X | ribosomal protein |
PDZK4 | Â | X | X | Â | nucleus-nucleolus | X | X | Â | X | Â | Â | Â | Â | Â | Â | Â | Â | unknown function |
STK23 | X | Â | X | Â | cytoplasm & nucleus aggregates | X | X | X | X | Â | Â | Â | X | X | Â | X | Â | serine/threonine kinase |
BGN | Â | Â | X | X | n.a. | X | X | X | X | Â | X | X | Â | Â | Â | Â | Â | connective tissue metabolism by binding to collagen fibrils and transferring growth factor-beta |
CETN2 | Â | Â | Â | X | cytoplasm & nucleus | X | X | X | X | X | X | X | Â | Â | Â | X | Â | calcium-binding protein, structural component of the centrosome |