AAMP is a 434 amino acid immunoglobulin-like protein that contains 8 WD repeats. Expressed in endothelial cells, cytotrophoblasts and blood vessels, AAMP is thought to have a heparin-sensitive role in cell adhesion and cell migration. AAMP is strongly expressed in poorly differentiated colon adenocarcinoma cells, suggesting a role for AAMP in tumor progression.
Human SUG1 (also known as p45, Rpt6, Cim3 and PSMC5) is a component of the 19S regulatory subunit of the 26S proteosome complex. It is one of the AAA ATPas found in the 19S regulatory complex that is thought to participate in the unfolding of ubiquitinated proteins in an ATP dependent manner. It has also been shown to directly interact with the nucleotide excision repair protein XPB.
Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
KCTD9 contains a potassium channel tetramerisation domain. The N-terminal, cytoplasmic tetramerisation domain (T1) of voltage-gated potassium channels encodes molecular determinants for subfamily-specific assembly of alpha-subunits into functional tetrameric channels. The specific function of KCTD9 is unknown.
GALT (Galactose 1 phosphate uridyl transferase) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP glucose + galactose 1 phosphate to glucose 1 phosphate + UDP galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined.