UFM1 Chromosome 13

Ubiquitin fold modifier 1

3 variants 3 Health Risk

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What This Gene Does

UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Dec 2008]

Associated Conditions (3)

Leukodystrophy

hypomyelinating

Key Variants

RS1033946108

Likely pathogenic

Leukodystrophy, hypomyelinating, 14

Health Risk

RS1172508646

Likely pathogenic

Leukodystrophy, hypomyelinating, 14

Health Risk

RS747359907

Pathogenic/Likely pathogenic

Leukodystrophy, hypomyelinating, 14

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS1033946108	Health Risk	Likely pathogenic	Leukodystrophy, hypomyelinating, 14
RS1172508646	Health Risk	Likely pathogenic	Leukodystrophy, hypomyelinating, 14
RS747359907	Health Risk	Pathogenic/Likely pathogenic	Leukodystrophy, hypomyelinating, 14