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

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

rs10899735 in DDC;FIGNL1 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs137853209 in DDC;FIGNL1 gene and Deficiency of aromatic-L-amino-acid decarboxylase PMID 15079002 2004 Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.

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

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

PMID 17240182 2007 Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes.

rs10899736 in DDC;FIGNL1 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 22076464 2012 Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.