PMID- 10610724
OWN - NLM
STAT- MEDLINE
DCOM- 20000209
LR  - 20091119
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 62
IP  - 2
DP  - 1999 Dec 1
TI  - Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and
      cloning and expression of its mouse homologue.
PG  - 289-92
AB  - Citrullinemia is an autosomal recessive disease characterized by an
      argininosuccinate synthetase (ASS) deficiency. Adult-onset type II citrullinemia 
      (CTLN2) is a form of the disease that is defined by a quantitative decrease in
      ASS protein, but with normal kinetic properties. The gene causing CTLN2
      (SLC25A13) was identified by positional cloning (from 7q21.3) and found to encode
      a putative calcium-dependent mitochondrial carrier protein. To facilitate
      mutation analysis, here we describe the intron-exon boundaries of the human
      SLC25A13 gene. We have also cloned and characterized the mouse homologue
      (Slc25a13), which is predicted to encode a protein of 676 amino acids with 96%
      amino acid identity to SLC25A13. RNA in situ hybridization analysis shows that
      Slc25a13 is expressed in the branchial arches, as well as the limb and tail buds,
      during mouse embryonic development (E10.5). At E13.5 expression of Slc25a13 is
      most predominant in epithelial structures, in addition to the forebrain, kidney, 
      and liver.
CI  - Copyright 1999 Academic Press.
FAU - Sinasac, D S
AU  - Sinasac DS
AD  - Department of Genetics and Genomic Biology, The Hospital for Sick Children,
      Toronto, Ontario, Canada.
FAU - Crackower, M A
AU  - Crackower MA
FAU - Lee, J R
AU  - Lee JR
FAU - Kobayashi, K
AU  - Kobayashi K
FAU - Saheki, T
AU  - Saheki T
FAU - Scherer, S W
AU  - Scherer SW
FAU - Tsui, L C
AU  - Tsui LC
LA  - eng
SI  - GENBANK/AF164525
SI  - GENBANK/AF164526
SI  - GENBANK/AF164527
SI  - GENBANK/AF164528
SI  - GENBANK/AF164529
SI  - GENBANK/AF164530
SI  - GENBANK/AF164632
SI  - GENBANK/AH009104
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (Calcium-Binding Proteins)
RN  - 0 (Membrane Transport Proteins)
RN  - 0 (Mitochondrial Membrane Transport Proteins)
RN  - 0 (Mitochondrial Proteins)
RN  - 0 (SLC25A13 protein, human)
RN  - 0 (Slc25a13 protein, mouse)
RN  - EC 6.3.4.5 (Argininosuccinate Synthase)
SB  - IM
MH  - Adult
MH  - Animals
MH  - Argininosuccinate Synthase/deficiency/genetics
MH  - Calcium-Binding Proteins/biosynthesis/*chemistry/*genetics
MH  - Citrullinemia/enzymology/*genetics
MH  - Cloning, Molecular
MH  - Embryonic and Fetal Development/genetics
MH  - Epithelial Cells/metabolism
MH  - Exons/genetics
MH  - *Gene Expression Regulation
MH  - Humans
MH  - Introns/genetics
MH  - *Membrane Transport Proteins
MH  - Mice
MH  - Mitochondrial Membrane Transport Proteins
MH  - *Mitochondrial Proteins
MH  - Molecular Sequence Data
MH  - Organ Specificity/genetics
MH  - *Sequence Homology, Amino Acid
EDAT- 1999/12/28 00:00
MHDA- 1999/12/28 00:01
CRDT- 1999/12/28 00:00
PHST- 1999/12/28 00:00 [pubmed]
PHST- 1999/12/28 00:01 [medline]
PHST- 1999/12/28 00:00 [entrez]
AID - 10.1006/geno.1999.6006 [doi]
AID - S0888-7543(99)96006-8 [pii]
PST - ppublish
SO  - Genomics. 1999 Dec 1;62(2):289-92. doi: 10.1006/geno.1999.6006.