🧬 基因注释：PLOD2

官方名称：procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

功能摘要：The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].

• PTBP1 综合评分: 0.474 · 证据 2 条
• HNRNPC 综合评分: 0.448 · 证据 2 条
• KHSRP 综合评分: 0.398 · 证据 2 条
• TIA1 综合评分: 0.374 · 证据 1 条
• HNRNPA1 综合评分: 0.350 · 证据 2 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• HNRNPM 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• QKI 综合评分: 0.350 · 证据 1 条
• PCBP2 综合评分: 0.344 · 证据 1 条
• EWSR1 综合评分: 0.312 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPD 综合评分: 0.300 · 证据 2 条
• HNRNPK 综合评分: 0.300 · 证据 2 条
• HNRNPL 综合评分: 0.300 · 证据 2 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• SRSF3 综合评分: 0.300 · 证据 1 条
• SRSF9 综合评分: 0.300 · 证据 1 条
• Srsf3 综合评分: 0.300 · 证据 1 条

该基因暂无关联疾病记录