Gene: DIABLO

Alternate names for this Gene: DFNA64|SMAC

Gene Summary: This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by binding to inhibitor of apoptosis proteins. Overexpression of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this gene is associated with young-adult onset of nonsyndromic deafness-64. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.31

Description of this Gene: diablo IAP-binding mitochondrial protein

Type of Gene: protein-coding

Gene: B3GNT4

Alternate names for this Gene: B3GN-T4|beta3Gn-T4

Gene Summary: This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.31

Description of this Gene: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4

Type of Gene: protein-coding

rs4758675 in DIABLO;B3GNT4 gene and Triglycerides measurement PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.