GeneID: 463



Names

Common Name: ATP11C Type: Gene
Chromosome: X (NC_000023.11) Locus: NG_016550.2 (ATP11C)
HUGO Symbol: ATP11C Full Name: ATPase phospholipid transporting 11C
Exons: 30 Introns: 29

Description:
The ATP11C gene encodes the catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids, phosphatidylserines (PS) and phosphatidylethanolamines (PE), from the outer to the inner leaflet of the plasma membrane. In erythrocyte plasma membrane, it is required to maintain PS in the inner leaflet preventing its exposure on the surface. This asymmetric distribution is critical for the survival of erythrocytes in circulation since externalized PS is a phagocytic signal for erythrocyte clearance by splenic macrophages. Genetic mutations in this gene cause congenital mild hemolytic anemia inherited as an X-linked recessive trait. The ATP11C gene is also implicated in the development of vaso-occlusive crisis in sickle cell disease.

Synonyms: ATPIG , ATPIQ , HACXL

Comments:
N/A

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Publications / Origin

  1. Arashiki N, Takakuwa Y, Mohandas N, Hale J, Yoshida K, Ogura H, Utsugisawa T, Ohga S, Miyano S, Ogawa S, Kojima S, Kanno H, ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia., Haematologica, 101(5), 559-65, 2016 PubMed
  2. Pereira-Martins DA, Coelho-Silva JL, Domingos IF, Weinhäuser I, Franca-Neto PL, Araujo AS, Franca RF, Bezerra MA, Lucena-Araujo AR, The ratio of ATP11C/PLSCR1 mRNA transcripts has clinical significance in sickle cell anemia., Ann Hematol, 2021 PubMed
Created on 2021-12-14 16:46:35, Last reviewed on (Show full history)


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