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CA12 | carbonic anhydrase XII; Reversible hydration of carbon dioxide (354 aa) | |||
DHRS7 | dehydrogenase/reductase (SDR family) member 7 (339 aa) | |||
HSDL1 | hydroxysteroid dehydrogenase like 1 (330 aa) | |||
RBP2 | retinol binding protein 2, cellular; Intracellular transport of retinol (134 aa) | |||
ACLY | ATP citrate lyase; ATP citrate-lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. Has a central role in de novo lipid synthesis. In nervous tissue it may be involved in the biosynthesis of acetylcholine (1101 aa) | |||
RLBP1 | retinaldehyde binding protein 1; Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the ’visual cycle’ (317 aa) | |||
HSD17B12 | hydroxysteroid (17-beta) dehydrogenase 12; Catalyzes the transformation of estrone (E1) into estradiol (E2), suggesting a central role in estrogen formation. Its strong expression in ovary and mammary gland suggest that it may constitute the major enzyme responsible for the conversion of E1 to E2 in women. Also has 3-ketoacyl-CoA reductase activity, reducing both long chain 3-ketoacyl-CoAs and long chain fatty acyl-CoAs, suggesting a role in long fatty acid elongation (312 aa) | |||
GPD1L | glycerol-3-phosphate dehydrogenase 1-like; Plays a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increased levels of glycerol 3-phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, may ultimately lead to decreased sodium current; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced by DPD1L (351 aa) | |||
SDHAF2 | succinate dehydrogenase complex assembly factor 2; Required for insertion of FAD cofactor into SDHA, the catalytic subunit of succinate dehydrogenase (SDH). SDH is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). In is unclear whether it participates in the chemistry of FAD attachment (enzymatic function) or acts as a chaperone that maintains SDHA in a conformation that is susceptible to autocatalytic FAD attachment (166 aa) | |||
SCD5 | stearoyl-CoA desaturase 5; Fatty acid delta-9-desaturase that introduces a double bond in fatty acyl-coenzyme A at the delta-9 position (330 aa) | |||
LRAT | lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase); Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters. Retinyl esters are storage forms of vitamin A. LRAT plays a critical role in vision. It provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into 11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11 cis-retinol is oxidized and converted into 11-cis-retinaldehyde which is the chrom [...] (230 aa) | |||
ATP9A | ATPase, class II, type 9A (1047 aa) | |||
UBC | ubiquitin C (685 aa) | |||
SLC30A10 | solute carrier family 30, member 10; May be involved in zinc transport out of the cell, being a zinc-efflux transporter (By similarity) (485 aa) | |||
SLC30A1 | solute carrier family 30 (zinc transporter), member 1; May be involved in zinc transport out of the cell (507 aa) | |||
SEC63 | SEC63 homolog (S. cerevisiae); Required for integral membrane and secreted preprotein translocation across the endoplasmic reticulum membrane (760 aa) | |||
SCD | stearoyl-CoA desaturase (delta-9-desaturase) (359 aa) | |||
BLOC1S2 | biogenesis of lysosomal organelles complex-1, subunit 2; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking. May play a role in [...] (142 aa) | |||
RDH11 | retinol dehydrogenase 11 (all-trans/9-cis/11-cis); Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity towards 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected (318 aa) | |||
KDSR | 3-ketodihydrosphingosine reductase; Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS) (332 aa) | |||
PPT1 | palmitoyl-protein thioesterase 1; Removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. Prefers acyl chain lengths of 14 to 18 carbons (306 aa) | |||
ATP9B | ATPase, class II, type 9B (1147 aa) | |||
SUMO2 | SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae); Ubiquitin-like protein that can be covalently attached to proteins as a monomer or as a lysine-linked polymer. Covalent attachment via an isopeptide bond to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I, and can be promoted by an E3 ligase such as PIAS1-4, RANBP2 or CBX4. This post-translational modification on lysine residues of proteins plays a crucial role in a number of cellular processes such as nuclear transport, DNA replication and repair, mitosis and signal transduc [...] (95 aa) | |||
ROBO2 | roundabout, axon guidance receptor, homolog 2 (Drosophila); Receptor for SLIT2, and probably SLIT1, which are thought to act as molecular guidance cue in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development (1394 aa) | |||
SELT | selenoprotein T precursor (195 aa) | |||
ENSG00000256591 | Uncharacterized protein (163 aa) |