DDC

On this page, you will find information about a genetic change that was identified in a UDN participant.

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Changes in the DDC gene were identified in a male, age 16 with aromatic l-amino acid decarboxylase deficiency (read full description).

Date of Report

Jan 09, 2019

Full Name

dopa decarboxylase

Location

Chromosome 7 (7p12.2-p12.1)

Function

The DDC gene codes for an enzyme (aromatic l-amino acid decarboxylase (AADC)) that is important in the brain and nervous system (MedlinePlus Genetics).

Database Links

GeneCards: DDC

MedlinePlus Genetics: DDC gene

NCBI Gene: 1644

OMIM: 107930

UniProtKB: P20711

Clinical Significance

The following changes in this gene were identified in a UDN participant.

Gene DDC

Inheritance Pattern Autosomal recessive

Position (hg19) chr7:g.50597030C>G

Transcript NM_000790.3

DNA Change c.446G>C

Protein Change p.Ser149Thr

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