Showing Protein Mitochondrial ornithine transporter 1 (HMDBP02312)

• 7797
• HMDBP03496

1. Solute carrier family 25 member 15

• Arginine and proline metabolism
• Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency)
• Argininemia
• Argininosuccinic Aciduria
• Carbamoyl Phosphate Synthetase Deficiency
• Citrullinemia Type I
• Creatine deficiency, guanidinoacetate methyltransferase deficiency
• Guanidinoacetate Methyltransferase Deficiency (GAMT Deficiency)
• Hyperornithinemia with gyrate atrophy (HOGA)
• Hyperornithinemia-hyperammonemia-homocitrullinuria [HHH-syndrome]
• Hyperprolinemia Type I
• Hyperprolinemia Type II
• L-arginine:glycine amidinotransferase deficiency
• Ornithine Aminotransferase Deficiency (OAT Deficiency)
• Ornithine Transcarbamylase Deficiency (OTC Deficiency)
• Prolidase Deficiency (PD)
• Prolinemia Type II
• Urea Cycle

1. Mitochondrion inner membrane
2. Multi-pass membrane protein

>906 bp
ATGAAATCCAATCCTGCTATCCAGGCTGCCATTGACCTCACAGCGGGGGCTGCAGGAGGT
ACAGCATGTGTACTGACCGGGCAGCCCTTTGACACAATGAAAGTGAAGATGCAGACGTTC
CCTGACCTGTACCGGGGCCTCACCGACTGCTGCCTGAAGACTTACTCCCAGGTGGGCTTC
CGTGGCTTCTACAAGGGTACCAGTCCAGCACTAATCGCCAACATCGCTGAGAACTCAGTC
CTCTTCATGTGCTACGGCTTCTGCCAGCAGGTGGTGCGGAAAGTGGCTGGATTGGACAAG
CAGGCAAAGCTGAGTGATCTGCAGAATGCAGCCGCCGGTTCCTTCGCCTCTGCCTTTGCT
GCACTGGTGCTCTGCCCCACGGAGCTCGTGAAGTGCCGGCTGCAGACCATGTATGAGATG
GAGACATCAGGGAAGATAGCCAAGAGCCAGAATACAGTGTGGTCTGTCATCAAAAGTATT
CTTAGGAAAGATGGCCCCTTGGGGTTCTACCATGGACTCTCAAGCACTTTACTTCGAGAA
GTACCAGGCTATTTCTTCTTCTTCGGTGGCTATGAACTGAGCCGGTCCTTTTTTGCATCA
GGGAGATCAAAAGATGAATTAGGCCCTGTACCTTTGATGTTAAGTGGTGGAGTTGGTGGG
ATTTGCCTCTGGCTTGCGGTATACCCAGTGGATTGTATCAAATCCAGAATTCAAGTTCTT
TCCATGTCTGGAAAACAGGCAGGATTTATCAGAACCTTTATAAATGTTGTGAAAAATGAA
GGAATAACGGCCTTATATTCTGGACTGAAACCTACTATGATTCGAGCATTCCCTGCCAAT
GGAGCACTCTTTTTGGCCTACGAATATAGCAGGAAGTTGATGATGAACCAGTTGGAAGCA
TACTGA

• Mito_carr (PF00153 )

>Mitochondrial ornithine transporter 1
MKSNPAIQAAIDLTAGAAGGTACVLTGQPFDTMKVKMQTFPDLYRGLTDCCLKTYSQVGF
RGFYKGTSPALIANIAENSVLFMCYGFCQQVVRKVAGLDKQAKLSDLQNAAAGSFASAFA
ALVLCPTELVKCRLQTMYEMETSGKIAKSQNTVWSVIKSILRKDGPLGFYHGLSSTLLRE
VPGYFFFFGGYELSRSFFASGRSKDELGPVPLMLSGGVGGICLWLAVYPVDCIKSRIQVL
SMSGKQAGFIRTFINVVKNEGITALYSGLKPTMIRAFPANGALFLAYEYSRKLMMNQLEA
Y

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4. Camacho JA, Obie C, Biery B, Goodman BK, Hu CA, Almashanu S, Steel G, Casey R, Lambert M, Mitchell GA, Valle D: Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. Nat Genet. 1999 Jun;22(2):151-8. [PubMed:10369256 ]
5. Fiermonte G, Dolce V, David L, Santorelli FM, Dionisi-Vici C, Palmieri F, Walker JE: The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. J Biol Chem. 2003 Aug 29;278(35):32778-83. Epub 2003 Jun 13. [PubMed:12807890 ]
6. Tsujino S, Kanazawa N, Ohashi T, Eto Y, Saito T, Kira J, Yamada T: Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Ann Neurol. 2000 May;47(5):625-31. [PubMed:10805333 ]
7. Salvi S, Dionisi-Vici C, Bertini E, Verardo M, Santorelli FM: Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Hum Mutat. 2001 Nov;18(5):460. [PubMed:11668643 ]
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