BLOC1S5-TXNDC5
Description
The BLOC1S5-TXNDC5 (BLOC1S5-TXNDC5 readthrough (NMD candidate)) is a ncRNA gene located on chromosome 6.
The BLOC1S5-TXNDC5 fusion gene is a chimeric transcript created by a gene rearrangement event. It combines parts of the BLOC1S5 gene, involved in lysosome biogenesis, and the TXNDC5 gene, encoding a protein disulfide isomerase. The functional implications of this fusion are not fully understood, but it likely influences cellular trafficking, protein folding, and redox homeostasis.
The BLOC1S5-TXNDC5 fusion gene is a complex chimeric transcript resulting from a gene rearrangement event. Its functional implications are still under investigation, as it combines elements of two distinct genes with potentially contrasting roles. BLOC1S5, involved in biogenesis of lysosomal organelles, might contribute to cellular trafficking and degradation pathways. TXNDC5, a protein disulfide isomerase, potentially influences protein folding and redox homeostasis. The precise impact of their fusion on cellular function remains an area of active research.
BLOC1S5-TXNDC5 is also known as MUTED-TXNDC5.
Associated Diseases
- Griscelli syndrome type 3
- Glanzmann thrombasthenia 1
- Tietz syndrome
- oculocutaneous albinism type 3
- thrombocytopenia 7
- bleeding disorder, platelet-type, 24
- neutropenia, severe congenital, 2, autosomal dominant
- Bernard-Soulier syndrome
- oculocutaneous albinism type 4
- Hermansky-Pudlak syndrome 9
- Hermansky-Pudlak syndrome without pulmonary fibrosis
- X-linked severe congenital neutropenia
- Hermansky-Pudlak syndrome
