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Acetyl-Coenzyme A acetyltransferase 2 is an enzyme involved in lipid metabolism. Reported patients with ACAT2 deficiency have shown severe mental retardation and hypotonus. The ACAT2 gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands of DNA, as well as in opposite transcriptional orientation.

This gene encodes a proline-directed serine/threonine kinase that is a member of the cyclin-dependent kinase family of proteins. Unlike other members of the family, the protein encoded by this gene does not directly control cell cycle regulation. Instead the protein, which is predominantly expressed at high levels in mammalian postmitotic central nervous system neurons, functions in diverse processes such as synaptic plasticity and neuronal migration through phosphorylation of proteins require

Chitotriosidase is secreted by activated human macrophages and is markedly elevated in plasma of Gaucher disease patients. The expression of chitotriosidase occurs only at a late stage of differentiation of monocytes to activated macrophages in culture. Human macrophages can synthesize a functional chitotriosidase, a highly conserved enzyme with a strongly regulated expression. This enzyme may play a role in the degradation of chitin-containing pathogens. Several alternatively spliced transcri

ZNF307 contains 1 SCAN box domain, 1 KRAB domain and 7 C2H2-type zinc fingers. It belongs to the Krueppel C2H2-type zinc-finger protein family and may be involved in transcriptional regulation. [SUBCELLULAR LOCATION] Nucleus. Expressed in adult heart, brain, placenta, lung and kidney, but not in adult liver and skeletal muscle. In 17-day old embryo, detected in liver, skeletal muscle, brain, heart and small intestine.

Smad 4 is a member of the Mothers Against Dpp (MAD)-related family of proteins. So far, eight Smads have been identified and can be divided in 3 subgroups based on their structure and functions; pathway-restricted, common mediator and inhibitory Smad. Smad 4 is the common Smad (co-Smad). Previously identified as the tumor suppressor DPC4 (deleted in pancreatic carcinoma, locus 4), Smad 4 is functionally distinct among the Smad family, and is required for the assembly and transcriptional ac

The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 2 of this gene family. In addition to forming homodimers, this protein heterodimerizes with member 1 of the zinc fingers and homeoboxes family. [provided by RefSeq, Jul 2008].[FUNCTION] Acts as a transcriptional repressor