Literature summary for 2.4.1.222 extracted from

Otomo, N.; Mizumoto, S.; Lu, H.F.; Takeda, K.; Campos-Xavier, B.; Mittaz-Crettol, L.; Guo, L.; Takikawa, K.; Nakamura, M.; Yamada, S.; Matsumoto, M.; Watanabe, K.; Ikegawa, S.
Identification of novel LFNG mutations in spondylocostal dysostosis (2019), J. Hum. Genet., 64, 261-264 .

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Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q8NES3	-	-

Synonyms

Synonyms	Comment	Organism
LFNG	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	a Japanese Spondylocostal dysostosis case with multiple severe vertebral anomalies from cervical to sacral spine is a compound heterozygote for c.372delG (p.K124Nfs*) and c.601G>A (p.D201N) variants of the enzyme (LFNG), which encodes a glycosyltransferase (O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase). The missense variant is in the DxD motif, an active-site motif of the glycosyltransferase, and its loss of the enzyme function is confirmed by an in vitro enzyme assay	Homo sapiens

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Release 2023.1 (January 2023)