Gene: BBOF1

Alternate names for this Gene: C14orf45|CCDC176|FBB10

Gene Summary:

Gene is located in Chromosome: 14

Location in Chromosome : 14q24.3

Description of this Gene: basal body orientation factor 1

Type of Gene: protein-coding

Gene: ALDH6A1

Alternate names for this Gene: MMSADHA|MMSDH

Gene Summary: This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 14

Location in Chromosome : 14q24.3

Description of this Gene: aldehyde dehydrogenase 6 family member A1

Type of Gene: protein-coding