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MDDGC5
Chr 19ARfukutin related protein
Also known as: FKTR, LGMD2I, LGMDR9, MDC1C, MDDGA5, MDDGB5, MDDGC5
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.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MDDGC5?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
MDDGC5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Study to Evaluate the Safety of AB-1003 (Previously LION-101) in Subjects With Genetic Confirmation of LGMD2I/R9 (Part1)
RECRUITINGATA-100 (Formerly GNT0006) Gene Therapy Trial in Patients With LGMDR9
ACTIVE NOT RECRUITINGNo open access results found
External Resources
Links to major genomics databases and tools