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Diseases
COMPLEX MOLECULE AND ORGANELLE METABOLISM
18 Congenital disorders of glycosylation
18.2 Disorders of O-linked protein glycosylation
18.2.1 Disorders of O-mannosylation
Muscular dystrophy-dystroglycanopathy
POMT1-CDG
POMT2-CDG
POMGNT1-CDG
POMGNT2-CDG
B3GALNT2-CDG
POMK-CDG
CRPPA-CDG
FKTN-CDG
FKRP-CDG
RXYLT1-CDG
B4GAT1-CDG
LARGE1-CDG
TMEM260-CDG
TMTC3-CDG
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
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Home
Diseases
COMPLEX MOLECULE AND ORGANELLE METABOLISM
18 Congenital disorders of glycosylation
18.2 Disorders of O-linked protein glycosylation
18.2.1 Disorders of O-mannosylation
Muscular dystrophy-dystroglycanopathy
POMT1-CDG
POMT2-CDG
POMGNT1-CDG
POMGNT2-CDG
B3GALNT2-CDG
POMK-CDG
CRPPA-CDG
FKTN-CDG
FKRP-CDG
RXYLT1-CDG
B4GAT1-CDG
LARGE1-CDG
TMEM260-CDG
TMTC3-CDG
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
TMTC3-CDG
Synonym(s)
Lissencephaly type 8
Type
Disease
Gene
TMTC3
/ Transmembrane and tetratricopeptide repeat containing 3
12q21.32
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Transmembrane and tetratricopeptide repeat containing 3 protein
Disease group(s)
18.2.1 Disorders of O-mannosylation