Q4G1H0
[Other Products]
UniProt Related Accession #
Molecular Weight
218, 95, 75kD Observed UniProtKB/ Swiss-Prot entry Q8IZT6 describes 2 isoforms produced by alternative splicing: Isoform 1 at 409.800 kD and Isoform 2 at 217.794 kD. Multiple other isoforms in ref: Human Molecular Genetics, 2005, Vol.14 No. 15 2155-2165. [Similar Products]
NCBI Official Full Name
ASPM protein
NCBI Official Synonym Full Names
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
NCBI Official Synonym Symbols
ASP; MCPH5; Calmbp1; FLJ10517; FLJ10549; FLJ43117; DKFZp686N06184 [Similar Products]
NCBI Protein Information
abnormal spindle-like microcephaly-associated protein; OTTHUMP00000034411; OTTHUMP00000034412
UniProt Protein Name
Abnormal spindle-like microcephaly associated splice variant 2
UniProt Entry Name
Q4G1H0_HUMAN
NCBI Summary for ASPM
This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.
UniProt Comments for ASPM
ASPM: Probable role in mitotic spindle regulation and coordination of mitotic processes. May have a preferential role in regulating neurogenesis. Defects in ASPM are the cause of microcephaly primary type 5 (MCPH5); also known as true microcephaly or microcephaly vera. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits. This entity is inherited as autosomal recessive trait. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Cell cycle regulation
Chromosomal Location of Human Ortholog: 1q31
Cellular Component: microtubule; cytoplasm; midbody; nucleus
Molecular Function: calmodulin binding
Biological Process: oogenesis; developmental growth; maintenance of centrosome localization; mitosis; positive regulation of neuroblast proliferation; negative regulation of neuron differentiation; negative regulation of asymmetric cell division; male gonad development; neuron migration; spermatogenesis; cerebral cortex development; forebrain neuroblast division
Disease: Microcephaly 5, Primary, Autosomal Recessive
Research Articles on ASPM
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Diseases associated with anti-ASPM antibody
Organs/Tissues associated with anti-ASPM antibody
|