GeneID: 441


Common Name: FCHSD2 Type: Gene
Chromosome: 11 (NC_000011.10) Locus: NM_014824.3 (FCHSD2)
HUGO Symbol: FCHSD2 Full Name: FCH and double SH3 domains 2
Exons: 20 Introns: 19

FCHSD2 encodes an adapter protein that plays a role in endocytosis via clathrin-coated pits and membrane receptor internalization. It is predicted to function in actin dynamics. Sequence variation in FCHSD2 associated with disease severity in β-thalassaemia/HbE in spite of inconsistent reports of statistical significance.

Synonyms: N/A


Sequence Viewer

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Publications / Origin

  1. Sherva R, Sripichai O, Abel K, Ma Q, Whitacre J, Angkachatchai V, Makarasara W, Winichagoon P, Svasti S, Fucharoen S, Braun A, Farrer LA, Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study., BMC Med. Genet. , 11(0), 51, 2010 PubMed
Created on 2021-07-19 18:09:05, Last reviewed on (Show full history)

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