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FLASH GENE

Symbol

FANCC

contributors: mct/npt/pgu - updated : 05-10-2022

HGNC name	Fanconi anemia, complementation group C
HGNC id	3584

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

FANCC , DEL9Q22

related resource

Fanconi Anaemia Mutation Database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       loss of function in leukemias tumoral     --low   by hypermethylation of promoter regions in sporadic acute leukaemia constitutional       loss of function associated with failure to inhibit late firing replication origins after DNA cross-linking constitutional       loss of function facilitates short telomere-initiated telomere recombination tumoral     --low   in bladder cancer

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	alterations of FANCC and PTCH1 could be used as molecular marker for early diagnosis and prognosis of head and neck squamous cell carcinoma (HNSCC)
Therapy target	introducing expression cassettes for TT-adapted U1 snRNAs into primary FANCC patient fibroblasts allowed the correction of the DNA-damage-induced G2 cell-cycle arrest in these cells, thus representing an alternative transcript-targeting approach for genetic therapy of inherited splice-site mutations

ANIMAL & CELL MODELS