Gene: HACL1

Alternate names for this Gene: 2-HPCL|HPCL|HPCL2|PHYH2

Gene Summary:

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.1

Description of this Gene: 2-hydroxyacyl-CoA lyase 1

Type of Gene: protein-coding

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

rs1057516440 in HACL1;BTD gene and Biotinidase Deficiency PMID 15059618 2004 Identification of alternatively spliced human biotinidase mRNAs and putative localization of endogenous biotinidase.