NPL - N-acetylneuraminate pyruvate lyase Gene

中文名称：N-乙酰神经氨酸丙酮酸裂解酶

种属: Homo sapiens

同用名: NAL; C112; NPL1; C1orf13

关于 NPL

功能概要

该基因编码 (beta/alpha) (8) -桶酶的 N-乙酰神经氨酸裂解酶亚家族的成员。 N-乙酰神经氨酸裂解酶通过介导唾液酸可逆转化为 N-乙酰甘露糖胺和丙酮酸来调节 N-乙酰神经氨酸 (唾液酸) 的细胞浓度。该基因的假基因位于 2 号染色体的短臂上。已观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2011 年 1 月]

This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel Enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]