Bcap31
WebBAP31 is a chaperone protein that is abundant in the endoplasmic reticulum (ER). BAP31 plays a role in the export of secreted proteins in the ER, the recognition of abnormally folded protein and their targeting to the ER associated-degradation (ERAD). It also serves as a cargo receptor for the export of transmembrane proteins. WebMar 4, 2024 · According to our previous studies 11, B cell receptor-associated protein 31 (BAP31/BCAP31) is a CTA-like protein which is highly expressed in many forms of …
Bcap31
Did you know?
WebBCAP31 Gene - Somatic Mutations in Cancer Actionability v8 is now available for download Gene GRCh38 · COSMIC v97 Gene view The gene view histogram is a graphical view of mutations across BCAP31. These mutations are displayed at the amino acid level across the full length of the gene by default. WebBCAP31, encoded by BCAP31, is involved in the export of transmembrane proteins from the endoplasmic reticulum. Pathogenic variants in BCAP31 results in global developmental delay, dystonia, deafness and dysmorphic features in males, called deafness, dystonia, and cerebral hypomyelination (DDCH) syndrome.
WebJan 17, 2024 · All BCAP31 mutations in four previously reported families were loss-of-function variants and inherited from carrier mothers. While all carrier females were intellectually normal, a mother was reported to have bilateral sensorineural hearing loss (Albanyan et al., 2024 ). WebThis page is about bringing awareness to a genetic disorder called Bcap31. Questions are encouraged! In December of 2013 both of my brothers were diagnosed after 21 years of …
Web人可溶性肿瘤坏死因子样凋亡微弱诱导剂(stweak)elisa测定试剂盒现货提供 返回列表页 WebFeb 1, 2024 · The BCAP31 gene is located in the chromosomal region Xq28 and encodes BAP31, a chaperone protein localized within the endoplasmic reticulum (ER) membrane and responsible for protein transportation, folding quality control and caspase8-dependant apoptosis (Grimm, 2012; Zhang and Williams, 2006).
WebBCAP31 INFORMATION. Proteini. Full gene name according to HGNC. B cell receptor associated protein 31. Gene namei. Official gene symbol, which is typically a short form of the gene name, according to HGNC. BCAP31 (6C6-Ag, BAP31, CDM, DXS1357E) Protein classi. Assigned HPA protein class (es) for the encoded protein (s).
WebFeb 5, 2024 · BCR-Associated Protein 31 Regulates Macrophages Polarization and Wound Healing Function via Early Growth Response 2/C/EBPbeta and IL-4Ralpha/C/EBPbeta Pathways. These findings indicate that BAP31 may modulate inflammatory cytokines and cognitive impairment induced by neuroinflammation through IRAK1 hatinhtvWebFeb 18, 2024 · The BCAP31 gene (MIM 300398) is located at Xq28 and encodes B-cell-receptor-associated protein 31 (BAP31), a ubiquitous 31-kDa chaperone protein highly … boots opticians west bromwichWebBCAP31, 6C6-AG, BAP31, CDM, DDCH, DXS1357E, B-cell receptor-associated protein 31, B-cell receptor associated protein 31, B cell receptor associated protein 31: External IDs: … hat in harry potterWebSpeed is critical in responding to a novel pathogen. Our cross-functional task force is developing products, processes and infrastructure to bolster our long-term preparedness so we can get required tests to those who need them quickly. boots opticians westbury on trymWebBCAP31 (6C6-Ag, BAP31, CDM, DXS1357E) protein expression summary. We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy … boots opticians wembley high roadWebB cell receptor associated protein 31. Gene namei. Official gene symbol, which is typically a short form of the gene name, according to HGNC. BCAP31 (6C6-Ag, BAP31, CDM, … hatinh interactiveWebBcap31 Name B cell receptor associated protein 31 Synonyms BAP31 Feature Type protein coding gene IDs MGI:1350933 NCBI Gene: 27061 Alliance gene page Transcription Start Sites 8 TSS Location & Maps more Sequence Map ChrX:72729784-72759781 bp, - strand From Ensembl annotation of GRCm39 Genetic Map Chromosome X, 37.38 cM, … ha tinh pty ltd inala