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Abnormal spindle-like microcephaly-associated protein

Probable role in mitotic spindle regulation and coordination of mitotic processes. May have a preferential role in regulating neurogenesis.

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Abnormal spindle-like microcephaly-associated protein

Also known as Abnormal spindle-like microcephaly-associated protein (Abnormal spindle protein homolog) (Asp homolog).
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: nucleus

Biological Process: spindle localization; spindle organization and biogenesis

Disease: Microcephaly 5, Primary, Autosomal Recessive
Proteins Root Name Listing
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