UFD1L Products

Description

The protein encoded by the UFD1L gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. (provided by RefSeq)

Bioinformatics

Entrez	7353 Human
Uniprot	NM_001035247 Human NM_005659 Human NP_005650.2 Human Q92890 Human
Product By Gene ID	7353
Alternate Names	ATP1C ATP1G1ATPase, Na+/K+ transporting, gamma 1 polypeptide FXYD domain containing ion transport regulator 2 FXYD domain-containing ion transport regulator 2 HOMG2 hypomagnesemia 2, renal MGC12372 Na(+)/K(+) ATPase subunit gamma Sodium pump gamma chain sodium/potassium-transporting ATPase subunit gamma Sodium-potassium-ATPase, gamma polypeptide