Slc39a13, also known as ZIP13, is a zinc transporter with a crucial role in multiple biological processes. It is involved in iron transport, iron homeostasis, and is associated with pathways like BMP/TGF-beta signaling. It also plays an important part in connective tissue development, making it biologically significant [1,5].

In gene-knockout mouse models, Zip13-knockout male mice have iron deposition in several tissues, indicating its importance in iron homeostasis [1]. Slc39a13-KO mice show defects in the maturation of osteoblasts, chondrocytes, odontoblasts, and fibroblasts, with impairment in BMP and TGF-beta signaling [5]. In addition, morphometric analysis of the thoracic aorta and cornea in Zip13-KO mice reveals abnormalities in elastic and cellular components, indicating fragility in the aorta and corneal stroma respectively [2,3].

In conclusion, Slc39a13 is essential for iron homeostasis and connective tissue development. The study of Slc39a13 KO mouse models has provided insights into its role in Ehlers-Danlos syndrome, where mutations in this gene can lead to various clinical manifestations related to connective tissue abnormalities [2,3,4,5].

References:

1. Li, Huihui, Cui, Yanmei, Hu, Yule, Sun, Fei, Zhou, Bing. 2024. Mammalian SLC39A13 promotes ER/Golgi iron transport and iron homeostasis in multiple compartments. In Nature communications, 15, 10838. doi:10.1038/s41467-024-55149-2. https://pubmed.ncbi.nlm.nih.gov/39738060/

2. Hirose, Takuya, Shimazaki, Takamasa, Takahashi, Naoki, Tangkawattana, Prasarn, Takehana, Kazushige. 2019. Morphometric analysis of thoracic aorta in Slc39a13/Zip13-KO mice. In Cell and tissue research, 376, 137-141. doi:10.1007/s00441-018-2977-9. https://pubmed.ncbi.nlm.nih.gov/30610452/

3. Hirose, Takuya, Suzuki, Ippei, Takahashi, Naoki, Tangkawattana, Prasarn, Takehana, Kazushige. 2018. Morphometric analysis of cornea in the Slc39a13/Zip13-knockout mice. In The Journal of veterinary medical science, 80, 814-818. doi:10.1292/jvms.18-0019. https://pubmed.ncbi.nlm.nih.gov/29563392/

4. Agrawal, Poorvi, Kaur, Harpreet, Kondekar, Alpana, Rathi, Surbhi. 2023. A case of Ehlers-Danlos syndrome presenting as short stature: a novel mutation in SLC39A13 causing spondylodysplastic Ehlers-Danlos syndrome. In Oxford medical case reports, 2023, omac107. doi:10.1093/omcr/omac107. https://pubmed.ncbi.nlm.nih.gov/36727144/

5. Fukada, Toshiyuki, Civic, Natacha, Furuichi, Tatsuya, Superti-Furga, Andrea, Hirano, Toshio. 2008. The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. In PloS one, 3, e3642. doi:10.1371/journal.pone.0003642. https://pubmed.ncbi.nlm.nih.gov/18985159/