GDSBA

Chr 22AD

trinucleotide repeat containing adaptor 6B

Also known as: GDSBA

The protein encoded by this gene binds RNA and regulates mRNA degradation and microRNA-mediated gene silencing. Mutations cause global developmental delay with speech and behavioral abnormalities with autosomal dominant inheritance. The phenotype involves early developmental impairment affecting multiple domains including communication and behavior.

Summary from RefSeq, OMIM
Research Assistant →

Primary Disease Associations & Inheritance

Global developmental delay with speech and behavioral abnormalitiesMIM #619243
AD
0
Active trials
0
Pubs (1 yr)
0
P/LP submissions
P/LP missense
LOEUF
Mechanism
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/GDSBA?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GDSBA · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 1 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found