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

Gene: DDC-AS1

Alternate names for this Gene:

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