DDC

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

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

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 (Genetics Home Reference).

Database Links

GeneCards: GC07M050458

Genetics Home Reference: 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 Chr7: 50597030
Transcript NM_000790
DNA Change c.446G>C
Protein Change p.S149T
Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!