UBA6

Chr 4

ubiquitin like modifier activating enzyme 6

Also known as: E1-L2, MOP-4, UBE1L2

NCBI Gene: 55236 ENSG00000033178 UniProt: A0AVT1 OMIM: 611361

UBA6 encodes a ubiquitin-activating enzyme (E1) that initiates protein ubiquitination by adenylating and activating ubiquitin, and also activates the ubiquitin-like protein FAT10. Mutations cause autosomal recessive spastic paraplegia-81 and neurodevelopmental disorder with spastic paraplegia and microcephaly, presenting with developmental delay, intellectual disability, spastic paraplegia, and microcephaly. This gene is highly intolerant to loss-of-function variation (LOEUF 0.561) and is essential for embryonic development.

OMIM ResearchSummary from RefSeq, UniProt

Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 0.56

Clinical Summary— UBA6

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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