2024年12月25日 · HYAL2 (Hyaluronidase 2) is a Protein Coding gene. Diseases associated with HYAL2 include Hyal2 Deficiency and Cleft Lip And Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome. Among its related pathways are Glycosaminoglycan metabolism and Metabolism.

It has been described as a lysosomal hyaluronidase which is active at a pH below 4 and specifically hydrolyzes high molecular weight hyaluronan. It has also been described as a GPI-anchored cell surface protein which does not display hyaluronidase activity but does serve as a receptor for the oncogenic virus Jaagsiekte sheep retrovirus.

Hyaluronidase 2 (HYAL2) is a membrane-anchored protein that is proposed to initiate the degradation of hyaluronan (HA) in the extracellular matrix. The distribution of HYAL2 in tissues, and of HA in tissues lacking HYAL2, is largely unexplored despite the importance of HA metabolism in several disea …

我们推测 Hyal2，通过与 CD44 的直接相互作用以及可能需要酸性病灶的一些细胞周透明质酸酶活性，抑制糖萼的形成或稳定性，调节 ERM 相关的细胞骨架相互作用，并减少细胞运动。

2015年10月29日 · Hyaluronidase 2 (HYAL2) is a membrane-anchored protein that is proposed to initiate the degradation of hyaluronan (HA) in the extracellular matrix. The distribution of HYAL2 in tissues, and of HA in tissues lacking HYAL2, is largely unexplored despite the importance of HA metabolism in several disease processes.

HYAL2 mutations identified as a cause of syndromic orofacial clefting and cor triatriatum sinister in amish families. our data uncover a previously unsuspected mechanism of how hyaluronan and Hyal-2 control platelet generation.

Hyaluronidase (HYAL)-2 is a weak, acid-active, hyaluronan-degrading enzyme broadly expressed in somatic tissues. Aberrant HYAL2 expression is implicated in diverse pathology. However, a significant proportion of HYAL2 is enzymatically inactive; thus the mechanisms through which HYAL2 dysregulation influences pathobiology are unclear.

2017年1月12日 · HYAL2, encoding hyaluronidase 2, degrades extracellular hyaluronan, a critical component of the developing heart and palatal shelf matrix. Transfection assays demonstrated that the gene mutations destabilize the molecule, dramatically reducing HYAL2 protein levels.

这种透明质酸酶充当致癌病毒 Jaagsiekte 绵羊逆转录病毒的受体。 该基因是染色体 3p21.3 区域与肿瘤抑制相关的几个相关基因之一。 该基因编码两个选择性剪接的转录本变体，它们仅在 5' UTR 不同。 [RefSeq 提供，2010 年 3 月] This gene encodes a weak acid-active hyaluronidase. The encoded protein is similar in structure to other more active hyaluronidases.

2001年12月1日 · Hyal2 enzymes have an acidic pH-optimum with an activity that is considerably lower than observed for other types of hyaluronidases. Originally considered to be a typical lysosomal enzyme, more recent evidence has shown that Hyal2 proteins can also be exposed on the cell surface bound to the plasma membrane via a GPI anchor.