PMID- 10369257
OWN - NLM
STAT- MEDLINE
DCOM- 19990629
LR  - 20131121
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 22
IP  - 2
DP  - 1999 Jun
TI  - The gene mutated in adult-onset type II citrullinaemia encodes a putative
      mitochondrial carrier protein.
PG  - 159-63
AB  - Citrullinaemia (CTLN) is an autosomal recessive disease caused by deficiency of
      argininosuccinate synthetase (ASS). Adult-onset type II citrullinaemia (CTLN2) is
      characterized by a liver-specific ASS deficiency with no abnormalities in hepatic
      ASS mRNA or the gene ASS (refs 1-17). CTLN2 patients (1/100,000 in Japan) suffer 
      from a disturbance of consciousness and coma, and most die with cerebral edema
      within a few years of onset. CTLN2 differs from classical citrullinaemia (CTLN1, 
      OMIM 215700) in that CTLN1 is neonatal or infantile in onset, with ASS enzyme
      defects (in all tissues) arising due to mutations in ASS on chromosome 9q34 (refs
      18-21). We collected 118 CTLN2 families, and localized the CTLN2 locus to
      chromosome 7q21.3 by homozygosity mapping analysis of individuals from 18
      consanguineous unions. Using positional cloning we identified a novel gene,
      SLC25A13, and found five different DNA sequence alterations that account for
      mutations in all consanguineous patients examined. SLC25A13 encodes a 3.4-kb
      transcript expressed most abundantly in liver. The protein encoded by SLC25A13,
      named citrin, is bipartite in structure, containing a mitochondrial carrier motif
      and four EF-hand domains, suggesting it is a calcium-dependent mitochondrial
      solute transporter with a role in urea cycle function.
FAU - Kobayashi, K
AU  - Kobayashi K
AD  - Department of Biochemistry, Faculty of Medicine, Kagoshima University, Japan.
      dodoko12@med2.kufm.kagoshima-u.ac.jp
FAU - Sinasac, D S
AU  - Sinasac DS
FAU - Iijima, M
AU  - Iijima M
FAU - Boright, A P
AU  - Boright AP
FAU - Begum, L
AU  - Begum L
FAU - Lee, J R
AU  - Lee JR
FAU - Yasuda, T
AU  - Yasuda T
FAU - Ikeda, S
AU  - Ikeda S
FAU - Hirano, R
AU  - Hirano R
FAU - Terazono, H
AU  - Terazono H
FAU - Crackower, M A
AU  - Crackower MA
FAU - Kondo, I
AU  - Kondo I
FAU - Tsui, L C
AU  - Tsui LC
FAU - Scherer, S W
AU  - Scherer SW
FAU - Saheki, T
AU  - Saheki T
LA  - eng
SI  - GENBANK/AC002450
SI  - GENBANK/AC002540
SI  - GENBANK/AF001601
SI  - GENBANK/AF118838
SI  - GENBANK/L27624
SI  - GENBANK/M63012
SI  - GENBANK/R55737
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (Calcium-Binding Proteins)
RN  - 0 (Genetic Markers)
RN  - 0 (Membrane Transport Proteins)
RN  - 0 (Mitochondrial Membrane Transport Proteins)
RN  - 0 (Mitochondrial Proteins)
RN  - 0 (SLC25A13 protein, human)
RN  - 29VT07BGDA (Citrulline)
RN  - 8W8T17847W (Urea)
RN  - EC 6.3.4.5 (Argininosuccinate Synthase)
SB  - IM
MH  - Adult
MH  - Age of Onset
MH  - Amino Acid Metabolism, Inborn Errors/*genetics/metabolism
MH  - Amino Acid Sequence
MH  - Animals
MH  - Argininosuccinate Synthase/deficiency/genetics
MH  - Brain Edema/genetics
MH  - Caenorhabditis elegans/genetics
MH  - Calcium-Binding Proteins/biosynthesis/chemistry/*genetics
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 9
MH  - Citrulline/*blood
MH  - Consanguinity
MH  - Conserved Sequence
MH  - Female
MH  - Genes, Recessive
MH  - Genetic Markers
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - *Membrane Transport Proteins
MH  - Mitochondria, Liver/*metabolism
MH  - Mitochondrial Membrane Transport Proteins
MH  - *Mitochondrial Proteins
MH  - Models, Molecular
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Protein Structure, Secondary
MH  - Sequence Alignment
MH  - Sequence Homology, Amino Acid
MH  - Syndrome
MH  - Transcription, Genetic
MH  - Urea/metabolism
EDAT- 1999/06/16 10:00
MHDA- 2001/03/23 10:01
CRDT- 1999/06/16 10:00
PHST- 1999/06/16 10:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/06/16 10:00 [entrez]
AID - 10.1038/9667 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Jun;22(2):159-63. doi: 10.1038/9667.