This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and mental retardation. Alternate splicing results in multiple transcript variants that encode the same protein.
This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located.
Scavenging receptor SR-BI (SCARB1) is a plasma membrane receptor for high density lipoprotein cholesterol (HDL). SCARB1 mediates cholesterol transfer to and from HDL. In addition, this protein is a receptor for hepatitis C virus glycoprotein E2 and facilitates cell entry by the virus, SARS-CoV2.
Mitochondrial import inner membrane translocase subunit TIM14 (TIM14) is an essential component of the PAM complex. PAM complex is required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. In the complex, TIM14 is required to stimulate activity of mtHSP70 (SSC1). TIM14 belongs to the DnaJ family, which has been involved in Hsp40/Hsp70 chaperone systems. As a mitochondrial chaperone, TIM14 functions as part of the TIM23 complex import motor to facilitate the import of nuclear-encoded proteins into the mitochondria. TIM14 also complexes with prohibitin complexes to regulate mitochondrial morphogenesis, and has been implicated in dilated cardiomyopathy with ataxia.
Mitochondrial import inner membrane translocase subunit TIM16 (TIM16) is an ssential component of the PAM complex. PAM complex is required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. In the complex, TIM16 is required to regulate activity of mtHSP70 (SSC1) via its interaction with PAM18/TIM14. TIM16 may act by positioning PAM18/TIM14 in juxtaposition to mtHSP70 at the translocon to maximize ATPase stimulation.
The protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-28K and calretinin. This protein is thought to be involved in KCL-stimulated calcium flux and cell proliferation. Diseases associated with SCGN include Insulinoma and Neuroendocrine Tumor. Among its related pathways are Neuroscience and Ca, cAMP and Lipid Signaling. An important paralog of this gene is CALB2.
The encoded protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-25K and calretinin. This protein is thought to be involved in KCL-stimulated calcium flux and cell proliferation.
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