Category: Proteins & Peptides

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Reference: GTX88022-PEP

This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 21]

Reference: GFM86AF-100

Insulin-like Growth Factor 2 (IGF-2) is an important fetal growth hormone made by theca cells during gestation. IGF-2 engages the IGF-1 receptor (IGF1R) to mediate embryonic growth. IGF-2 also binds the sink IGF-2 receptor (IGF2R) leading to IGF-2 degradation.

Reference: GTX88023-PEP

ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 28]

Reference: GFM86AF-1000

Insulin-like Growth Factor 2 (IGF-2) is an important fetal growth hormone made by theca cells during gestation. IGF-2 engages the IGF-1 receptor (IGF1R) to mediate embryonic growth. IGF-2 also binds the sink IGF-2 receptor (IGF2R) leading to IGF-2 degradation.

Reference: GTX88024-PEP

This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 28]

Reference: GFH182-5

Indian hedgehog (IHH) is an essential signaling factor that is secreted in the gut, cartilage, and bone during embryonic development. IHH acts through the patched (PTC) receptor to induce transcriptional changes important for bone and cartilage development. IHH also induces the expression of parathyroid hormone-related peptide (PTHrP), which in turn mediates IHH activity during chondrocyte differentiation, forming a negative feedback loop.

Reference: GTX88025-PEP

This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 28]

Reference: GFH182-25

Indian hedgehog (IHH) is an essential signaling factor that is secreted in the gut, cartilage, and bone during embryonic development. IHH acts through the patched (PTC) receptor to induce transcriptional changes important for bone and cartilage development. IHH also induces the expression of parathyroid hormone-related peptide (PTHrP), which in turn mediates IHH activity during chondrocyte differentiation, forming a negative feedback loop.

Reference: GTX88026-PEP

This gene encodes the human homolog of the yeast Imp3 protein. The protein localizes to the nucleoli and interacts with the U3 snoRNP complex. The protein contains an S4 domain. [provided by RefSeq, Jul 28]

Reference: GFH182-100

Indian hedgehog (IHH) is an essential signaling factor that is secreted in the gut, cartilage, and bone during embryonic development. IHH acts through the patched (PTC) receptor to induce transcriptional changes important for bone and cartilage development. IHH also induces the expression of parathyroid hormone-related peptide (PTHrP), which in turn mediates IHH activity during chondrocyte differentiation, forming a negative feedback loop.

Reference: GTX88029-PEP

Desmosomes are intercellular junctions that tightly link adjacent cells. Desmoplakin is an obligate component of functional desmosomes that anchors intermediate filaments to desmosomal plaques. The N-terminus of desmoplakin is required for localization to the desmosome and interacts with the N-terminal region of plakophilin 1 and plakoglobin. The C-terminus of desmoplakin binds with intermediate filaments. In the mid-region of desmoplakin, a coiled-coiled rod domain is responsible for homodimerization. Mutations in this gene are the cause of several cardiomyopathies and keratodermas as well as the autoimmune disease paraneoplastic pemphigus. [provided by RefSeq, Jul 28]

Reference: GFH182-1000

Indian hedgehog (IHH) is an essential signaling factor that is secreted in the gut, cartilage, and bone during embryonic development. IHH acts through the patched (PTC) receptor to induce transcriptional changes important for bone and cartilage development. IHH also induces the expression of parathyroid hormone-related peptide (PTHrP), which in turn mediates IHH activity during chondrocyte differentiation, forming a negative feedback loop.