2024年12月24日 · BTD (Biotinidase) is a Protein Coding gene. Diseases associated with BTD include Biotinidase Deficiency and Biotin Deficiency. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and glycolysis (BioCyc).

The BTD gene provides instructions for making an enzyme called biotinidase. This enzyme recycles biotin, a B vitamin found in foods such as liver, egg yolks, and milk. Biotinidase removes biotin that is bound to proteins in food, leaving the vitamin in its free (unbound) state.

2000年3月24日 · Molecular genetic testing is performed by single-gene testing. Sequence analysis of BTD is performed first, followed by gene-targeted deletion/duplication analysis if only one or no pathogenic variant is found.

Biotinidase (EC 3.5.1.12, amidohydrolase biotinidase, BTD), also known as biotinase, [1] is an enzyme that in humans is encoded by the BTD gene. The enzyme breaks down biotin amides, releasing free biotin and the amine. The main substrate is biocytin, or biotin linked to lysine. It is also capable of breaking apart biotin esters.

2019年7月30日 · Biotinidase deficiency is a genetic disorder caused by changes (mutations) in the BTD gene. The BTD gene instructs the body in creating the enzyme biotinidase that helps the body recycle an important vitamin called biotin (vitamin H).

2012年1月5日 · The gene for human biotinidase (BTD) is located on chromosome 3q25. 20 The complementary DNA (cDNA) for human biotinidase from a human cDNA hepatic library has two putative ATG initiation...

2025年1月4日 · 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 …

Mutations in the BTD gene cause biotinidase deficiency. The BTD gene provides instructions for making an enzyme called biotinidase. This enzyme recycles biotin, a B vitamin found in foods such as liver, egg yolks, and milk.

The BTD gene provides instructions for making an enzyme called biotinidase. This enzyme recycles biotin, a B vitamin found in foods such as liver, egg yolks, and milk.

由该基因编码的蛋白质通过切割生物胞素 (生物素-ε-赖氨酸) (一种羧化酶降解的正常产物) 来回收蛋白质结合的生物素，从而导致游离生物素的再生。 编码的蛋白质也显示出具有生物素转移酶活性。 该基因的突变与生物素酶缺乏有关。 已经描述了编码不同亚型的多个转录变体。 [RefSeq 提 …