The characteristics and location of rat intestinal proteins with calcium binding properties were reexamined using both a 45Ca-equilibrated Sephadex G-100 column and the chelex 100 method in the assay of 45Ca binding activity. The rat intestinal mucosa was found to have three different proteins with calcium binding properties. Two of these proteins were found to be vitamin D-dependent and were examined in detail. The larger vitamin D-dependent protein, found predominantly in the jejunum and ileum, had a molecular weight of 27,000 and demonstrated low affinity for calcium; the detection of this protein by the chelex 100 assay was very difficult. The smaller vitamin D-dependent protein, which was associated mainly with duodenum and jejunum, had a molecular weight of 12,500, and demonstrated a high affinity for calcium.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.3177/jnsv.21.251 | DOI Listing |
Pediatr Dermatol
December 2024
Paediatric Endocrinology Division, Department of Paediatrics, Christian Medical College Vellore, Vellore, Tamil Nadu, India.
Vitamin D-dependent rickets type 2A (VDDR2A) is a rare cause of infantile-onset alopecia, characterized by severe hypotrichosis, small cutaneous cysts, early-onset treatment-resistant rickets, and hypocalcemia. Alopecia, often starting a few weeks to months after birth, may be the presenting feature. We present three cases of VDDR2A with genetic variants in the vitamin D receptor (VDR) gene, their clinical features and biochemical parameters.
View Article and Find Full Text PDFJ Bone Miner Res
December 2024
Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.
Duan X, et al, report that CYP4A22 loss-of-function causes a new form of vitamin D-dependent rickets. Here we describe the basis for our rejection of their proposal and provide evidence that the CYP4A22 variant that they have identified (c.901del, p.
View Article and Find Full Text PDFJ Pediatr Genet
December 2024
Centre for Human Genetics, Bengaluru, Karnataka, India.
Neuronal ceroid lipofuscinosis-type 1 (NCL-1) is a neurodegenerative lysosomal storage disorder. Vitamin D-dependent rickets type 1 (VDDR-1) is a rare cause of refractory rickets. Here, we report an unusual association of NCL-1 with VDDR-1.
View Article and Find Full Text PDFDiseases
October 2024
Laboratory of Molecular Biology, Section of Investigation, Department of Genetic, Hospital General de México "Dr. Eduardo Liceaga", México City 06720, Mexico.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!