C57BL/6JCya-Exph5em1/Cya
Common Name
Exph5-KO
Product ID
S-KO-09232
Backgroud
C57BL/6JCya
Strain ID
KOCMP-320051-Exph5-B6J-VA
When using this mouse strain in a publication, please cite “Exph5-KO Mouse (Catalog S-KO-09232) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Basic Information
Strain Name
Exph5-KO
Strain ID
KOCMP-320051-Exph5-B6J-VA
Gene Name
Product ID
S-KO-09232
Gene Alias
AC079869.22gm5, B130009M24Rik, E030050P12, Kiaa0624, Slac2b, slac2-b
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
Chr 9
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000051014
NCBI RefSeq
NM_176846
Target Region
Exon 2
Size of Effective Region
~0.2 kb
Overview of Gene Research
EXPH5, also known as Slac2-b, encodes exophilin-5, a protein involved in intracellular vesicle transport. It is associated with the exosome secretion pathway as silencing of EXPH5 inhibits exosome secretion, strengthening the link between multivesicular endosomes (MVEs) and exosomes [2].
Mutations in EXPH5 result in autosomal recessive inherited skin fragility, specifically a form of epidermolysis bullosa simplex (EBS) [3]. Transmission electron microscopy of patient skin with EXPH5 mutations shows disruption of keratinocytes in the lower epidermis, cytolysis, acantholysis, keratin filament clumping, and prominent perinuclear cytoplasmic vesicles [3]. Additionally, EXPH5 has been identified as a potential diagnostic gene biomarker for the late stage of chronic obstructive pulmonary disease (COPD). Its expression is significantly downregulated in the late stage of COPD, especially in main lung cell types AT1 and AT2, and it has correlations with certain immune cells such as positive with NK cells resting, mast cell resting, eosinophils, and negative with T cell gamma delta, macrophages M1 [1].
In conclusion, EXPH5 is crucial for intracellular vesicle transport and exosome secretion. Its mutations lead to skin-related disorders like EBS, and its differential expression in COPD may serve as a diagnostic biomarker. The study of EXPH5 in these contexts provides insights into disease mechanisms and potential diagnostic strategies for EBS and COPD.
References:
1. Yang, Yuwei, Cao, Yan, Han, Xiaobo, Xiao, Li, Xie, Lixin. 2023. Revealing EXPH5 as a potential diagnostic gene biomarker of the late stage of COPD based on machine learning analysis. In Computers in biology and medicine, 154, 106621. doi:10.1016/j.compbiomed.2023.106621. https://pubmed.ncbi.nlm.nih.gov/36746116/
2. Ostrowski, Matias, Carmo, Nuno B, Krumeich, Sophie, Moita, Luis F, Thery, Clotilde. 2009. Rab27a and Rab27b control different steps of the exosome secretion pathway. In Nature cell biology, 12, 19-30; sup pp 1-13. doi:10.1038/ncb2000. https://pubmed.ncbi.nlm.nih.gov/19966785/
3. Liu, L, Mellerio, J E, Martinez, A E, Parsons, M, McGrath, J A. . Mutations in EXPH5 result in autosomal recessive inherited skin fragility. In The British journal of dermatology, 170, 196-9. doi:10.1111/bjd.12723. https://pubmed.ncbi.nlm.nih.gov/24443915/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen
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