Abnormal Spindle-Like, Microcephaly-Associated

Alternative Names

ASPM
ASP, Drosophila, Homolog of
MCPH5 Gene

Length

62,568 bases

No. of Exons

No. of isoforms

Protein Name

Abnormal spindle-like microcephaly-associated protein

Molecular Mass

409800 Da

Amino Acid Count

3477

Genomic Location

chr1:197,084,127-197,146,694

Gene Map Locus

1q31.3

Description

ASPM gene is located on 1q31.3 chromosome. It encodes a protein of 3477 amino acids that is important in cell division. ASPM protein is found mainly in the brain and in other cells and tissues throughout the body. This protein helps in determining the total number of neurons and the overall size of the brain by promoting the division of neural progenitor cells during early brain development. Defects in this protein cause the autosomal recessive primary microcephaly disease, which is characterized by an abnormally small head and brain, intellectual disability, and delayed development.

Molecular Genetics

The ASPM gene contains a 10,434 bp long coding sequence with 28 exons. ASPM encodes several alternatively spliced isoforms that are expressed in most adult tissues and upregulated in malignant cells. More than 80 mutations in this gene have been identified causing the primary autosomal recessive microcephaly (MCPH) diseases. These mutations mainly result in producing short ASPM protein, which cause reduction in cell division, especially in neural progenitor cells in the developing brain.

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_018136.5:c.1138C>T	Saudi Arabia	NC_000001.11:g.197143114G>A	Likely Pathogenic, Pathogenic	Pathogenic	Microcephaly 5, Primary, Autosomal Recessive	NG_015867.1:g.8581C>T; NM_018136.5:c.1138C>T; NP_001193775.1:p.Gln380Ter	587783215	157777
NM_018136.5:c.1959_1962del	Saudi Arabia	NC_000001.11:g.197139838_197139841del	Pathogenic	Pathogenic	Microcephaly 5, Primary, Autosomal Recessive	NG_015867.1:g.11861_11864del; NM_018136.5:c.1959_1962del; NP_060606.3:p.Asn653LysfsTer14	199422147	21560
NM_018136.5:c.2389C>T	Algeria; Lebanon; Moro...	chr1:197133380	Pathogenic	Likely Pathogenic, Pathogenic	Microcephaly 5, Primary, Autosomal Recessive	NG_015867.1:g.18315C>T; NM_018136.5:c.2389C>T; NP_060606.3:p.Arg797Ter	145489194	4965
NM_018136.5:c.3067T>G	United Arab Emirates	NC_000001.11:g.197125061A>C	Uncertain Significance	Likely Pathogenic	Microcephaly 5, Primary, Autosomal Recessive	NG_015867.1:g.26634T>C; NM_018136.5:c.3067T>G; NP_060606.3:p.Leu1023Val		1679839
NM_018136.5:c.3506_3507del	Saudi Arabia	NC_000001.11:g.197122481_197122482del	Pathogenic	Pathogenic	Microcephaly 5, Primary, Autosomal Recessive	NG_015867.1:g.29215_29216del; NM_018136.5:c.3506_3507del; NP_060606.3:p.Val1169GlyfsTer15	769818500	434415
NM_018136.5:c.3742-1G>C	Saudi Arabia	NC_000001.11:g.197122044C>G		Pathogenic	Microcephaly 5, Primary, Autosomal Recessive	NG_015867.1:g.29651G>C; NM_018136.5:c.3742-1G>C
NM_018136.5:c.4074G>A	Morocco	NC_000001.11:g.197105177C>T	Pathogenic	Likely Pathogenic	Microcephaly 5, Primary, Autosomal Recessive	NG_015867.1:g.46518G>A; NM_018136.5:c.4074G>A; NP_060606.3:p.Trp1358Ter	199422162	21584
NM_018136.5:c.5064del	Saudi Arabia	NC_000001.11:g.197104187del	Likely Pathogenic	Pathogenic	Microcephaly 5, Primary, Autosomal Recessive	NG_015867.1:g.47508del; NM_018136.5:c.5064del; NP_060606.3:p.Val1689LeufsTer3	786205609	191263
NM_018136.5:c.6686_6689del	Algeria; Lebanon	NC_000001.11:g.197102570_197102573del	Pathogenic	Likely Pathogenic	Microcephaly 5, Primary, Autosomal Recessive	NG_015867.1:g.49130_49133del; NM_018136.5:c.6686_6689del; NP_060606.3:p.Arg2229ThrfsTer10	770540184	694011
NM_018136.5:c.7781_7782del	Algeria	NC_000001.11:g.197101469_197101470del	Pathogenic	Pathogenic	Microcephaly 5, Primary, Autosomal Recessive	NG_015867.1:g.50226_50227del; NM_018136.5:c.7781_7782del; NP_060606.3:p.Lys2595SerfsTer6	199422173	21606
NM_018136.5:c.7782_7783del	Algeria; United Arab E...	NC_000001.11:g.197101469_197101470del	Pathogenic	Likely Pathogenic, Pathogenic	Microcephaly 5, Primary, Autosomal Recessive	NG_015867.1:g.50226_50227del; NM_018136.5:c.7782_7783del; NP_060606.3:p.Lys2595SerfsTer6	199422173	21606
NM_018136.5:c.9084+5G>T	United Arab Emirates	NC_000001.11:g.197094079C>A		Likely Pathogenic	Microcephaly 5, Primary, Autosomal Recessive	NG_015867.1:g.57616G>T; NM_018136.5:c.9084+5G>T
NM_018136.5:c.9686_9690del	Lebanon	NC_000001.11:g.197090338_197090342del	Likely Pathogenic	Likely Pathogenic	Microcephaly 5, Primary, Autosomal Recessive	NG_015867.1:g.61356_61360del; NM_018136.5:c.9686_9690del; NP_060606.3:p.Ile3229fs	199422193	21633
NM_018136.5:c.9751del	United Arab Emirates	NC_000001.11:g.197090274del		Likely Pathogenic	Microcephaly 5, Primary, Autosomal Recessive	NG_015867.1:g.61424del; NM_018136.5:c.9751del; NP_060606.3:p.Arg3252GlufsTer10	199422197	21637

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External Links

http://ghr.nlm.nih.gov/gene/ASPM http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM https://www.ncbi.nlm.nih.gov/gene/259266

Contributors

Pratibha Nair: 23.06.2022
Pratibha Nair: 10.10.2021
Pratibha Nair: 08.07.2021
Ghazi O. Tadmouri: 26.06.2013
Nada Assaf: 09.06.2013

Edit History

Pratibha Nair: 23.06.2022
Pratibha Nair: 10.10.2021
Pratibha Nair: 08.07.2021
Pratibha Nair: 05.08.2020
Sami Bizzari: 23.12.2018
Pratibha Nair: 01.07.2013

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