Human | GTF2H5 | 404672 | general transcription factor IIH, polypeptide 5 | |
Human | FREM2 | 341640 | FRAS1 related extracellular matrix protein 2 | |
Human | TSEN54 | 283989 | TSEN54 tRNA splicing endonuclease subunit | |
Human | ASPM | 259266 | asp (abnormal spindle) homolog, microcephaly associated (Drosophila) | ASPM mutations is associated with microcephaly This is the first report suggesting that the suppression of Aspm by IR could be the initial molecular target leading to the future microcephaly formation Microcephaly (head circumference 5-11 S.D. below mean) |
Human | UBR1 | 197131 | ubiquitin protein ligase E3 component n-recognin 1 | |
Human | VPS13B | 157680 | vacuolar protein sorting 13 homolog B (yeast) | |
Human | ESCO2 | 157570 | establishment of sister chromatid cohesion N-acetyltransferase 2 | |
Human | GFM1 | 85476 | G elongation factor, mitochondrial 1 | |
Human | PHF6 | 84295 | PHD finger protein 6 | |
Human | PUS1 | 80324 | pseudouridylate synthase 1 | Microcephaly (reported in 1 family) |
Human | FRAS1 | 80144 | Fraser syndrome 1 | |
Human | EHMT1 | 79813 | euchromatic histone-lysine N-methyltransferase 1 | |
Human | SLC25A22 | 79751 | solute carrier family 25 (mitochondrial carrier: glutamate), member 22 | Microcephaly, progressive |
Human | MCPH1 | 79648 | microcephalin 1 | Microcephaly (head circumference 4 S.D. below mean) Allelic with premature chromosome condensation with microcephaly and mental retardation ({606858}) Data suggest that the microcephaly observed in patients with MCPH1 deficiencies is due to disruption of the ATR-BRCA1-Chk1 signaling pathway that is also disrupted in Seckel syndrome patients |
Human | FKRP | 79147 | fukutin related protein | Microcephaly (develops after birth) |
Human | PORCN | 64840 | porcupine homolog (Drosophila) | |
Human | SIL1 | 64374 | SIL1 nucleotide exchange factor | |
Human | SLC25A19 | 60386 | solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 | mutant protein lacks the normal transport activity, implying that failed deoxynucleotide transport across the inner mitochondrial membrane causes Amiah microcephaly (MCPHA) |
Human | MCOLN1 | 57192 | mucolipin 1 | |
Human | FAM20C | 56975 | family with sequence similarity 20, member C | |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | Microcephaly (less common) |
Human | ALG1 | 56052 | ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase | |
Human | CENPJ | 55835 | centromere protein J | Microcephaly (head circumference 7-10 S.D. below mean) |
Human | CHD7 | 55636 | chromodomain helicase DNA binding protein 7 | |
Human | NOP10 | 55505 | NOP10 ribonucleoprotein | |