Gene: SQSTM1

Alternate names for this Gene: A170|DMRV|FTDALS3|NADGP|OSIL|PDB3|ZIP3|p60|p62|p62B

Gene Summary: This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.3

Description of this Gene: sequestosome 1

Type of Gene: protein-coding

Gene: MGAT4B

Alternate names for this Gene: GNT-IV|GNT-IVB

Gene Summary: This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme A, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1, 4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.3

Description of this Gene: alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B

Type of Gene: protein-coding