Carnitine-acylcarnitine Translocase - Clinical Significance

Clinical Significance

A disorder is associated with carnitine-acylcarnitine translocase deficiency. This disorder prevents the shuttle-like action of carnitine from assisting fatty acids across the mitochondrial membrane and therefore there is decreased fatty acid catabolism. The result of this is an increased number of fat droplets within muscles and liver, decreased tolerance to long term exercise, inability to fast for more than a few hours, muscle weakness and wasting, and a strong acidic smell on the breath (due to protein breakdown).


Membrane proteins, carrier proteins: membrane transport proteins solute carrier (TC 2A)
By group
SLC1–10
  • (1) high affinity glutamate and neutral amino-acid transporter (SLC1A1, 2, 3, 4, 5, 6, 7)
  • (2) facilitative GLUT transporter (SLC2A1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14)
  • (3) heavy subunits of heterodimeric amino-acid transporters (SLC3A1, 2)
  • (4) bicarbonate transporter (SLC4A1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11)
  • (5) sodium glucose cotransporter (SLC5A1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12)
  • (6) sodium- and chloride- dependent sodium:neurotransmitter symporters (SLC6A1, SLC6A2, SLC6A3, SLC6A4, SLC6A5, SLC6A6, SLC6A7, SLC6A8, SLC6A9, SLC6A10, SLC6A11, SLC6A12, SLC6A13, SLC6A14, SLC6A15, SLC6A16, SLC6A17, SLC6A18, SLC6A19, SLC6A20)
  • (7) cationic amino-acid transporter/glycoprotein-associated (SLC7A1, SLC7A2, SLC7A3, SLC7A4) glycoprotein-associated/light or catalytic subunits of heterodimeric amino-acid transporters (SLC7A5, SLC7A6, SLC7A7, SLC7A8, SLC7A9, SLC7A10, SLC7A11, SLC7A13, SLC7A14)
  • (8) Na+/Ca2+ exchanger (SLC8A1, SLC8A2, SLC8A3)
  • (9) Na+/H+ exchanger (SLC9A1, SLC9A2, SLC9A3, SLC9A4, SLC9A5, SLC9A6, SLC9A7, SLC9A8, SLC9A9, SLC9A10, SLC9A11)
  • (10) sodium bile salt cotransport (SLC10A1, SLC10A2, SLC10A3, SLC10A4, SLC10A5, SLC10A6, SLC10A7); 10A1 · 10A2 · 10A3 · 10A7
SLC11–20
  • (11) proton coupled metal ion transporter (SLC11A1, SLC11A2) 11A3
  • (12) electroneutral cation-Cl cotransporter (SLC12A1, SLC12A1, SLC12A2, SLC12A3, SLC12A4, SLC12A5, SLC12A6, SLC12A7, SLC12A8, SLC12A9)
  • (13) human Na+-sulfate/carboxylate cotransporter (SLC13A1, SLC13A2, SLC13A3, SLC13A4, SLC13A5)
  • (14) urea transporter (SLC14A1, SLC14A2)
  • (15) proton oligopeptide cotransporter (SLC15A1, SLC15A2, SLC15A3, SLC15A4)
  • (16) monocarboxylate transporter (SLC16A1, SLC16A2, SLC16A3, SLC16A4, SLC16A5, SLC16A6, SLC16A7, SLC16A8, SLC16A9, SLC16A10, SLC16A11, SLC16A12, SLC16A13, SLC16A14)
  • (17) vesicular glutamate transporter (SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC17A5, SLC17A6, SLC17A7, SLC17A8, SLC17A9)
  • (18) vesicular amine transporter (SLC18A1, SLC18A2, SLC18A3)
  • (19) folate/thiamine transporter (SLC19A1, SLC19A2, SLC19A3)
  • (20) type III Na+-phosphate cotransporter (SLC20A1, SLC20A2)
SLC21–30
  • (21) organic anion transporting (SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B4, SLCO1C1) (SLCO2A1, SLCO2B1) (SLCO3A1) (SLCO4A1, SLCO4C1) (SLCO5A1) (SLCO6A1)
  • (22) organic cation/anion/zwitterion transporter (SLC22A1, SLC22A2, SLC22A3, SLC22A4, SLC22A5, SLC22A6, SLC22A7, SLC22A8, SLC22A9, SLC22A10, SLC22A11, SLC22A12, SLC22A13, SLC22A14, SLC22A15, SLC22A16, SLC22A17, SLC22A18, SLC22A19, SLC22A20)
  • (23) Na+-dependent ascorbic acid transporter (SLC23A1, SLC23A2, SLC23A3, SLC23A4)
  • (24) Na+/(Ca2+-K+) exchanger (SLC24A1, SLC24A2, SLC24A3, SLC24A4, SLC24A5, SLC24A6)
  • (25) mitochondrial carrier (SLC25A1, SLC25A2, SLC25A3, SLC25A4, SLC25A5, SLC25A6, SLC25A7, SLC25A8, SLC25A9, SLC25A10, SLC25A11, SLC25A12, SLC25A13, SLC25A14, SLC25A15, SLC25A16, SLC25A17, SLC25A18, SLC25A19, SLC25A20, SLC25A21, SLC25A22, SLC25A23, SLC25A24, SLC25A25, SLC25A26, SLC25A27, SLC25A28, SLC25A29, SLC25A30, SLC25A31, SLC25A32, SLC25A33, SLC25A34, SLC25A35, SLC25A36, SLC25A37, SLC25A38, SLC25A39, SLC25A40, SLC25A41, SLC25A42, SLC25A43, SLC25A44, SLC25A45, SLC25A46)
  • (26) multifunctional anion exchanger (SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A6, SLC26A7, SLC26A8, SLC26A9, SLC26A10, SLC26A11)
  • (27) fatty acid transport proteins (SLC27A1, SLC27A2, SLC27A3, SLC27A4, SLC27A5, SLC27A6)
  • (28) Na+-coupled nucleoside transport (SLC28A1, SLC28A2, SLC28A3
  • (29) facilitative nucleoside transporter (SLC29A1, SLC29A2, SLC29A3, SLC29A4)
  • (30) zinc efflux (SLC30A1, SLC30A2, SLC30A3, SLC30A4, SLC30A5, SLC30A6, SLC30A7, SLC30A8, SLC30A9, SLC30A10)
SLC31–40
  • (31) copper transporter (SLC31A1)
  • (32) vesicular inhibitory amino-acid transporter (SLC32A1)
  • (33) Acetyl-CoA transporter (SLC33A1)
  • (34) type II Na+-phosphate cotransporter (SLC34A1, SLC34A2, SLC34A3)
  • (35) nucleoside-sugar transporter (SLC35A1, SLC35A2, SLC35A3, SLC35A4, SLC35A5) (SLC35B1, SLC35B2, SLC35B3, SLC35B4) (SLC35C1, SLC35C2) (SLC35D1, SLC35D2, SLC35D3) (SLC35E1, SLC35E2, SLC35E3, SLC35E4)
  • (36) proton-coupled amino-acid transporter (SLC36A1, SLC36A2, SLC36A3, SLC36A4)36A2 ·
  • (37) sugar-phosphate/phosphate exchanger (SLC37A1, SLC37A2, SLC37A3, SLC37A4)
  • (38) System A & N, sodium-coupled neutral amino-acid transporter (SLC38A1, SLC38A2, SLC38A3, SLC38A4, SLC38A5, SLC38A6, SLC38A10)
  • (39) metal ion transporter (SLC39A1, SLC39A2, SLC39A3, SLC39A4, SLC39A5, SLC39A6, SLC39A7, SLC39A8, SLC39A9, SLC39A10, SLC39A11, SLC39A12, SLC39A13, SLC39A14)
  • (40) basolateral iron transporter (SLC40A1)
SLC41–48
  • (41) MgtE-like magnesium transporter (SLC41A1, SLC41A2, SLC41A3)
  • (42) Ammonia transporter (RhAG, RhBG, RhCG)
  • (43) Na+-independent, system-L like amino-acid transporter (SLC43A1, SLC43A2, SLC43A3)
  • (44) Choline-like transporter (SLC44A1, SLC44A2, SLC44A3, SLC44A4, SLC44A5)
  • (45) Putative sugar transporter (SLC45A1, SLC45A2, SLC54A3, SLC45A4)
  • (46) Folate transporter (SLC46A1, SLC46A2)
  • (47) multidrug and toxin extrusion (SLC47A1, SLC47A2)
  • (48) Heme transporter
SLCO1–4
O1A2 · O1B1 · O1B3 · O2B1 · O431 · O4A1
Ion pumps
Symporter, Cotransporter Na+/K+/2Cl- - Na/Pi3 - Na+/Cl- - Na/glucose - Na+/I- - Cl-/K+ (4, 5)
Antiporter (exchanger) Na+/H+ - Na+/Ca2+ (Na+/(Ca2+-K+)) - Cl-/HCO3- (Band 3) - Cl-formate exchanger - Cl-oxalate exchanger
see also solute carrier disorders
B memb: cead, trns (1A, 1C, 1F, 2A, 3A1, 3A2-3, 3D), othr
Metabolism: lipid metabolism / fatty acid metabolism, triglyceride and fatty acid enzymes
Synthesis
Malonyl-CoA synthesis
  • ATP citrate lyase
  • Acetyl-CoA carboxylase
Fatty acid synthesis/
Fatty acid synthase
  • Beta-ketoacyl-ACP synthase
  • Β-Ketoacyl ACP reductase
  • 3-Hydroxyacyl ACP dehydrase
  • Enoyl ACP reductase
Fatty acid desaturases
  • Stearoyl-CoA_desaturase-1
Triacyl glycerol
  • Glycerol-3-phosphate dehydrogenase
  • Thiokinase
Degradation
Acyl transport
  • Carnitine palmitoyltransferase I
  • Carnitine-acylcarnitine translocase
  • Carnitine palmitoyltransferase II
Beta oxidation
General
  • Acyl CoA dehydrogenase (ACADL
  • ACADM
  • ACADS
  • ACADVL
  • ACADSB)
  • Enoyl-CoA hydratase
  • MTP: HADH
  • HADHA
  • HADHB
  • Acetyl-CoA C-acyltransferase
Unsaturated
  • Enoyl CoA isomerase
  • 2,4 Dienoyl-CoA reductase
Odd chain
  • Propionyl-CoA carboxylase
Other
  • Hydroxyacyl-Coenzyme A dehydrogenase
To acetyl-CoA
  • Malonyl-CoA decarboxylase
Aldehydes
  • Long-chain-aldehyde dehydrogenase

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
Mitochondrial proteins
Outer membrane

fatty acid degradation (Carnitine palmitoyltransferase I, Long fatty acyl CoA synthetase)

tryptophan metabolism (Kynureninase)

monoamine neurotransmitter metabolism (Monoamine oxidase)
Intermembrane space Adenylate kinase - Creatine kinase
Inner membrane

oxidative phosphorylation (Coenzyme Q - cytochrome c reductase, Cytochrome c, NADH dehydrogenase, Succinate dehydrogenase)

pyrimidine metabolism (Dihydroorotate dehydrogenase)

mitochondrial shuttle (Malate-aspartate shuttle, Glycerol phosphate shuttle)

other (Glutamate aspartate transporter, Glycerol-3-phosphate dehydrogenase, ATP synthase, Carnitine palmitoyltransferase II, Uncoupling protein)
Matrix

citric acid cycle (Citrate synthase, Aconitase, Isocitrate dehydrogenase, Oxoglutarate dehydrogenase, Succinyl coenzyme A synthetase, Fumarase, Malate dehydrogenase)

anaplerotic reactions (Aspartate transaminase, Glutamate dehydrogenase, Pyruvate dehydrogenase complex)

urea cycle (Carbamoyl phosphate synthetase I, Ornithine transcarbamylase, N-Acetylglutamate synthase)

alcohol metabolism (ALDH2)

PMPCB
Other/to be sorted

steroidogenesis (Cholesterol side-chain cleavage enzyme, Steroid 11-beta-hydroxylase, Aldosterone synthase), Frataxin

Mitochondrial membrane transport protein (Mitochondrial permeability transition pore, Mitochondrial carrier)
Mitochondrial DNA

Complex I (MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6) - Complex III (MT-CYB) - Complex IV (MT-CO1, MT-CO2, MT-CO3)

ATP synthase (MT-ATP6, MT-ATP8)

tRNA (MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY)
see also mitochondrial diseases
B strc: edmb (perx), skel (ctrs), epit, cili, mito, nucl (chro)

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