|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
MCPH5
Abnormal spindle-like microcephaly-associated protein
|
|
gptkbp:associatedWith
|
primary microcephaly
|
|
gptkbp:discoveredBy
|
Bond et al.
|
|
gptkbp:discoveredIn
|
2002
|
|
gptkbp:encodes
|
ASPM protein
|
|
gptkbp:Entrez_Gene_ID
|
259266
ENSG00000169692
|
|
gptkbp:expressedIn
|
gptkb:testis
developing brain
|
|
gptkbp:fullName
|
Abnormal Spindle Microtubule Assembly
|
|
gptkbp:function
|
neurogenesis
regulation of mitotic spindle
|
|
gptkbp:HGNC_ID
|
HGNC:17033
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ASPM
|
|
gptkbp:length
|
3477 amino acids
|
|
gptkbp:locatedOnChromosome
|
1q31
|
|
gptkbp:mutationAssociatedWith
|
intellectual disability
microcephaly
loss-of-function
reduced brain size
autosomal recessive primary microcephaly
|
|
gptkbp:OMIM
|
605481
|
|
gptkbp:orthologInDrosophila
|
asp
|
|
gptkbp:orthologInMouse
|
gptkb:Aspm
|
|
gptkbp:proteinFamily
|
calponin homology domain
ASPM repeats
IQ motifs
|
|
gptkbp:relatedTo
|
brain size evolution
|
|
gptkbp:UniProtID
|
Q8IZT6
|
|
gptkbp:bfsParent
|
gptkb:Aomori_Prefecture_Tourist_Center
|
|
gptkbp:bfsLayer
|
7
|