Phosphatase and Actin Regulator 1

Alternative Names

  • PHACTR1
  • KIAA1733
Back to search Result
OMIM Number

608723

NCBI Gene ID

221692

Uniprot ID

Q9C0D0

Length

573,879 bases

No. of Exons

22

No. of isoforms

2

Protein Name

Phosphatase and actin regulator 1

Molecular Mass

66308 Da

Amino Acid Count

580

Genomic Location

chr6:12,716,606-13,290,484

Gene Map Locus
6p24.1

Description

The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001242648.2:c.251-149640A>CLebanonNC_000006.12:g.12903725A>CAssociationCoronary Artery Disease, Autosomal Dominant, 1NM_001242648.2:c.251-149640A>C; NP_001229577.1:p.?9349379
© CAGS 2024. All rights reserved.