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Ovarian Kaleidoscope Database (OKdb)

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cilia and flagella associated protein 410 OKDB#: 5594
 Symbols: CFAP410 Species: human
 Synonyms: RDMS, SMDAX, LRRC76, YF5/A2, C21orf2  Locus: 21q22.3 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]
General function Channel/transport protein
Comment
Cellular localization Plasma membrane
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization Oocyte, Theca
Comment Calcium signaling and expression of voltage-gated calcium channels in the mouse ovary throughout the estrous cycle. Bahena-Alvarez D et al. (2018) The estrous cycle is an iterative change in the anatomy, endocrinology, physiology, and behavior to provide maximum fecundity. Ovarian steroid production involves gonadotrophin-induced [Ca2+]i raises due in part to voltage-gated Ca2+ channels (VGCC) whose identity and tissue distribution in situ is largely unknown. Using fluorescence Ca2+ imaging and confocal microscopy, we recorded both spontaneous and depolarization induced Ca2+ signals in living mouse ovarian slices. They were most prominent in theca cells and oocytes. The presence of Ca2+ channel subunits CaV 1.2, CaV 1.3, CaV 2.1, CaV 2.2 and CaV 3 were examined with immunofluorescence of ovarian sections. CaV 1.2 and CaV 1.3 (L-type Ca2+ channels) are present in the stroma, granular cells (GCs) and corpora lutea (CL). Intriguingly subunits that are characteristic of nerve cells are also expressed: P/Q-type (CaV 2.1; α1A) in the stroma and CL cells and N-type (CaV 2.2; α1B) in perifollicular smooth muscle cells. The expression of α1 subunits fluctuates along the estrous cycle: In metaestrus-diestrus (the quiescent stage of the cycle), CL and GCs are similarly stained, while in proestrus (stage of maximal ovarian stimulation) CL staining increases relatively to GCs. Also in proestrus, CaV 3 Ca2+ channel subunits are expressed more in CL compared to GC suggesting a more significant role of Ca2+ channels. In estrus, CaV 3 subunits from mesenchymal and interfollicular stromal cells become intensely stained. Our study represents an important step in understanding the role of voltage-gated Ca2+ channels in ovarian physiology and possibly in ovarian cancer and other reproductive pathologies.//////////////////
Follicle stages
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Phenotypes
Mutations 0 mutations
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Links
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created: Dec. 5, 2018, 10:35 a.m. by: system   email:
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last update: Dec. 5, 2018, 10:36 a.m. by: hsueh    email:



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