Gene: FIGNL1

Alternate names for this Gene: -

Gene Summary: This gene encodes a member of the AAA ATPase family of proteins. The encoded protein is recruited to sites of DNA damage where it plays a role in DNA double-strand break repair via homologous recombination. This protein has also been shown to localize to the centrosome and inhibit ciliogenesis, and may regulate the proliferation and differentiation of osteoblasts.

Gene is located in Chromosome: 7

Location in Chromosome : 7p12.2

Description of this Gene: fidgetin like 1

Type of Gene: protein-coding

Gene: DDC

Alternate names for this Gene: AADC

Gene Summary: The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7p12.2-p12.1

Description of this Gene: dopa decarboxylase

Type of Gene: protein-coding

rs4947584 in FIGNL1;DDC gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10899734 in FIGNL1;DDC gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs1276093487 in FIGNL1;DDC gene and Deficiency of aromatic-L-amino-acid decarboxylase PMID 15079002 2004 Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.

PMID 20505134 2010 Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.

PMID 14991824 2004 Levodopa-responsive aromatic L-amino acid decarboxylase deficiency.

rs1037351 in FIGNL1;DDC gene and Precursor Cell Lymphoblastic Leukemia Lymphoma PMID 23512250 2013 Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations.

PMID 19684603 2009 Germline genomic variants associated with childhood acute lymphoblastic leukemia.