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Galactosidase alpha is involved in the hydrolysis of terminal, non reducing alpha D galactose residues in alpha D galactosides, including galactose oligosaccharides, galactomannans and galactohydrolase. Defects in GLA are the cause of Fabry's disease (FD). FD is a rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, fe

Inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degraded by caspase-3-like family proteins upon TNF-induced apoptosis. May also play a role in the pro-inflammatory cytokine IL-1 signaling cascade.

EBP1 is a member of the peptidase M24C family and functions as an RNA-binding protein involved in cellular proliferation and differentiation processes. It is expressed in a variety of cell lines, including a wide range of tumor cell lines, and localizes to the cytoplasm. Upon treatment with Neuregulin-1 (heregulin), EBP1 translocates to the nucleus. EBP1 is a component of pre-ribosomal ribonucleoprotein complexes, participating in ribosome assembly and regulating the later steps of rRNA pro

This gene encodes a subunit of the polymerase associated factor (PAF1) complex. The PAF1 complex interacts with RNA polymerase II and plays a role in transcription elongation as well as histone modifications including ubiquitylation and methylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. Malate dehydrogenase 1 (MDH1) is localized to the cytoplasm and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria.

This gene encodes a member of the class I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein is a selenocysteine-containing flavoenzyme that maintains thioredoxins in a reduced state, thereby playing a key role in regulating the cellular redox environment. Mammals have three related thioredoxin reductases. This gene encodes a mitochondrial form important for scavenging of reactive oxygen species in mitochondria. Alternatively spliced transcript variants encoding different