Gene: EFCAB11

Alternate names for this Gene: C14orf143

Gene Summary:

Gene is located in Chromosome: 14

Location in Chromosome : 14q32.11

Description of this Gene: EF-hand calcium binding domain 11

Type of Gene: protein-coding

Gene: TDP1

Alternate names for this Gene: -

Gene Summary: The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1).

Gene is located in Chromosome: 14

Location in Chromosome : 14q32.11

Description of this Gene: tyrosyl-DNA phosphodiesterase 1

Type of Gene: protein-coding

rs3759710 in EFCAB11;TDP1 gene and Uveal melanoma PMID 31626034 2020 Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1.

rs3759710 in EFCAB11;TDP1 gene and epithelioid cell intraocular melanoma PMID 31626034 2020 Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1.