Actin, Alpha, Cardiac Muscle

Alternative Names

ACTC1
ACTC
Smooth Muscle Actin
Actin, Alpha

Associated Diseases

Atrial Septal Defect 5

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OMIM Number

102540

NCBI Gene ID

Uniprot ID

P68032

Length

7,632 bases

No. of Exons

No. of isoforms

Protein Name

Actin, Alpha Cardiac Muscle 1

Molecular Mass

42019 Da

Amino Acid Count

377

Genomic Location

chr15:34,788,095-34,795,726

Gene Map Locus

15q14

Description

Actins are a group of highly conserved proteins involved in cell motility. The ACTC1 gene encodes an actin protein specific to cardiac muscle.

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_005159.4:c.251T>C	Lebanon	NC_000015.10:g.34793448A>G		Pathogenic	Atrial Septal Defect 5	NG_007553.1:g.7279T>C; NM_005159.4:c.251T>C; NP_005150.1:p.Met84Thr

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTC1

Contributors

Sayeeda Hana: 07.07.2019

Edit History

Sayeeda Hana: 07.07.2019