Alt. symbols: KIAA0290

Approved name: FCH and mu domain containing endocytic adaptor 1
Alt. names: FCH domain only 1

Location: 19p13.11: 17747718 - 17788568 (+)
Gene type: protein_coding, 59 transcripts.

Scores: LoFtool: 0.396000 | pLI: 0.99899255 | LOEUF: 0.264

HGNC: 29002

NCBI: 23149, RefSeq: .0

Ensembl: ENSG00000130475.16

LRG_ | Status: none

OMIM: 613437

Expression | ProteinAtlas

The FCH01 gene encodes the FCHO1 protein, a key molecule involved in the early stages of clathrin-mediated endocytosis (CME) formation. Lyszkiewicz, M. et al. (2020) showed that FCHO1 is important for internalisation of the TCR.

Biallelic mutations in this gene cause a novel form of combined immunodeficiency known as FCHO1 deficiency. Lyszkiewicz, M. et al. (Nat. Comm. 2020) recently reported the identification of ten unrelated patients with variable T and B cell lymphopenia, who were homozygous for six distinct loss of function mutations in FCHO1. They proved that these LOF mutations either led to mislocalisation of the protein or prevented its interaction with binding partners. They also observed impaired formation of clathrin coated pits (CCP) and perturbed internalisation of the TCR receptor in cells expressing mutant FCHO1 proteins. [Load More]