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FLASH GENE

Symbol

POMT1

contributors: mct/shn - updated : 02-07-2019

HGNC name	protein-O-mannosyltransferase 1
HGNC id	9202

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

WLKWS1 , LGMD2K

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	homozygous Pomt1(-/-) mice suffer developmental arrest around embryonic day (E) 7.5 and die between E7.5 and E9.5 with defects in the formation of Reichert's membrane
	Amino acid substitution in POMT1 abolished enzymatic activity