Gene: ASPM

Alternate names for this Gene: ASP|Calmbp1|MCPH5

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q31.3

Description of this Gene: assembly factor for spindle microtubules

Type of Gene: protein-coding

rs886041709 in ASPM gene and Arthrogryposis PMID 31680123 2020 The genomic and clinical landscape of fetal akinesia.

rs10922162 in ASPM gene and Coagulation factor measurement PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.

rs1189399471 in ASPM gene and Dysmorphic features PMID 15806441 2005 Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

PMID 19028728 2009 The molecular landscape of ASPM mutations in primary microcephaly.

PMID 18452193 2008 Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.

PMID 12355089 2002 ASPM is a major determinant of cerebral cortical size.

PMID 19332161 2009 Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.

PMID 16141009 2005 ASPM mutations identified in patients with primary microcephaly and seizures.

PMID 20978018 2010 A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

PMID 22775483 2013 Genetic heterogeneity in Pakistani microcephaly families.

PMID 19770472 2009 Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

PMID 27250695 2016 Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.

rs886041709 in ASPM gene and Early severe fetal akinesia sequence PMID 31680123 2020 The genomic and clinical landscape of fetal akinesia.

rs745997770 in ASPM gene and Malformations of Cortical Development, Group II PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

rs1064795945 in ASPM gene and Microcephaly (physical finding) PMID 12355089 2002 ASPM is a major determinant of cerebral cortical size.

PMID 19770472 2009 Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

rs1064795945 in ASPM gene and Microcephaly, Primary Autosomal Recessive, 5 PMID 12355089 2002 ASPM is a major determinant of cerebral cortical size.

PMID 19770472 2009 Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

rs1189399471 in ASPM gene and Multiple congenital anomalies PMID 18452193 2008 Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.

PMID 27250695 2016 Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.

PMID 16141009 2005 ASPM mutations identified in patients with primary microcephaly and seizures.

PMID 20978018 2010 A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

PMID 12355089 2002 ASPM is a major determinant of cerebral cortical size.

PMID 19028728 2009 The molecular landscape of ASPM mutations in primary microcephaly.

PMID 15806441 2005 Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

PMID 22775483 2013 Genetic heterogeneity in Pakistani microcephaly families.

PMID 19770472 2009 Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

PMID 19332161 2009 Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.

rs765530357 in ASPM gene and Muscle hypotonia PMID 15806441 2005 Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

PMID 12355089 2002 ASPM is a major determinant of cerebral cortical size.

PMID 19770472 2009 Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

PMID 22775483 2013 Genetic heterogeneity in Pakistani microcephaly families.

PMID 19332161 2009 Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.

PMID 27250695 2016 Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.

PMID 20978018 2010 A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

PMID 16141009 2005 ASPM mutations identified in patients with primary microcephaly and seizures.

PMID 19028728 2009 The molecular landscape of ASPM mutations in primary microcephaly.

PMID 18452193 2008 Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.

rs1064795945 in ASPM gene and Narrow forehead PMID 12355089 2002 ASPM is a major determinant of cerebral cortical size.

PMID 19770472 2009 Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

rs1064795945 in ASPM gene and Poor school performance PMID 12355089 2002 ASPM is a major determinant of cerebral cortical size.

PMID 19770472 2009 Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

rs1064795945 in ASPM gene and Sloping forehead PMID 19770472 2009 Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

PMID 12355089 2002 ASPM is a major determinant of cerebral cortical size.

rs10737686 in ASPM gene and von Willebrand's factor (lab test) PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.