Ensembl is currently experiencing issues

The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.

You can check Ensembl's status at status.ensembl.org

MDDGC5

Chr 19AR

fukutin related protein

Also known as: FKTR, LGMD2I, LGMDR9, MDC1C, MDDGA5, MDDGB5, MDDGC5

NCBI Gene: 79147 OMIM: 607155

The protein is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations cause congenital muscular dystrophy with cognitive disability and cerebellar cysts, affecting both muscle and brain development from birth. This follows an autosomal recessive inheritance pattern.

OMIM ResearchSummary from RefSeq

This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]

OMIM ResearchGenerating clinical summary…

AR1 OMIM phenotype

Clinical Summary— MDDGC5

💊

Clinical Trials

2 active or recruiting trials — potential therapeutic options may be available

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/MDDGC5?content-type=application/json&expand=1

gnomad: Error: Gene not found