Gene: BTD

Alternate names for this Gene: -

Gene Summary: The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described.

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.1

Description of this Gene: biotinidase

Type of Gene: protein-coding

Gene: ANKRD28

Alternate names for this Gene: CFAP79|FAP79|PITK|PPP1R65

Gene Summary:

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.1

Description of this Gene: ankyrin repeat domain 28

Type of Gene: protein-coding

rs2455793 in BTD;ANKRD28 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.