Disease relevance of Slc25a20

• Spontaneous lymphomas from a strain of hereditary cataract (CAC-nct/+) mice were examined by light and electron microscopy and by immunohistochemical reaction for the mouse heavy and light immunoglobulin chains [1].

Psychiatry related information on Slc25a20

• Mice submitted to chronic alcohol consumption (CAC; 11 months) or to systemic diazepam administration were trained in a spatial reversal learning task [2].

High impact information on Slc25a20

• We focused on the globin CAC and CAAT promoter motifs, as previous laboratory and clinical studies indicated a pivotal role for these elements in globin gene activation [3].
• In this system, the fatty acid moiety of acyl-CoA is transferred enzymatically to carnitine, and the resultant product, acylcarnitine, is imported into the mitochondrial matrix through a transporter named carnitine-acylcarnitine translocase (CACT) [4].
• Osteoclasts from CAC 8-bearing nude mice after mithramycin administration were decreased in size, had small ruffled borders, and increased relative size of clear zones [5].
• The mutation changes the sequence at codon 177 from ACC to CAC, which results in a threonine to histidine substitution and appears to be the first in vitro mutation to have arisen by genetic recombination [6].
• The Mitf protein is a member of the Mitf-Tfe subfamily of basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factors and binds the 6-bp canonical CAC/TGTG sequence (E box) as either a homodimer or a heterodimer with related proteins [7].

Biological context of Slc25a20

• The syncytial phenotype of R4 was, however, mapped to the same region as 17 hep syn and the other recombinants, and the DNA sequence of the 670-base pair Kpnl-Pstl clone of R4 revealed another single base pair change predicting a leucine (CTC codon) to histadine (CAC codon) amino acid substitution at residue 787 of gB [8].

Anatomical context of Slc25a20

• Further, we definitively confirmed intact L-[(3)H]carnitine uptake (K(m) 1324 microM), solely attributable to OCTN1, in isolated mitochondria of mutant human skin fibroblasts having <1% of carnitine acylcarnitine translocase activity (alternate mitochondrial carnitine transporter) [9].

Associations of Slc25a20 with chemical compounds

• The effect of 2-chloroacetaldehyde, CAA, a metabolite of vinyl chloride and 2-chloroacetal, CAC, an ethyl diester of chloroacetaldehyde, on DNA synthesis in animal cells has been investigated [10].
• In conclusion, CAC, but not diazepam administration, induces an exaggerated sensitivity to proactive interference [2].
• This property was found associated with a mutation that alters the codon CGC (in the strain KOS or 17 sequence) to CAC (in the HSZP sequence), changing the amino acid 857 from arginine to histidine in the cytoplasmic domain of the glycoprotein B (gB) polypeptide chain [11].

Analytical, diagnostic and therapeutic context of Slc25a20

• A novel mitochondrial carnitine-acylcarnitine translocase induced by partial hepatectomy and fasting [4].

References