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SDS expression is significantly upregulated in human masticatory mucosa during wound healing
S84A serine racemase (Montrer SRR Protéines) mutant behaved like serine dehydratase, whereas A65S serine dehydratase mutant acquired an additional function of using D-serine as a substrate.
Deficiency of the ribosome biogenesis gene Sbds (Montrer SBDS Protéines) in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes
Sbds (Montrer SBDS Protéines) genotypes correlated with phenotypes in a mouse model of Shwachman-Diamond syndrome. Defects developed specifically in the pancreata of mice, reducing growth of mice and production of digestive enzymes.
Sbds (Montrer SBDS Protéines) is required for osteoclastogenesis by regulating monocyte migration via Rac2 (Montrer RAC2 Protéines) and osteoclast differentiation signaling downstream of RANK.
Sbds (Montrer SBDS Protéines) is an essential gene for early mammalian development, with an expression pattern consistent with a critical role in cell proliferation.
loss of Sbds (Montrer SBDS Protéines) is sufficient to induce abnormalities in hematopoiesis
The majority of Shwachman-Diamond syndrome cases are results of mutations in SBDS (Montrer SBDS Protéines) gene on chromosone 7q11.
This gene encodes one of three enzymes that are involved in metabolizing serine and glycine. L-serine dehydratase converts L-serine to pyruvate and ammonia and requires pyridoxal phosphate as a cofactor. The encoded protein can also metabolize threonine to NH4+ and 2-ketobutyrate. The encoded protein is found predominantly in the liver.
, L-serine deaminase
, L-serine dehydratase
, L-serine dehydratase/L-threonine deaminase
, L-threonine dehydratase
, serine dehydratase
, protein 22A3
, ribosome maturation protein SBDS
, shwachman-Bodian-Diamond syndrome protein homolog