Gene: PREPL

Alternate names for this Gene: CMS22

Gene Summary: The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2p21

Description of this Gene: prolyl endopeptidase like

Type of Gene: protein-coding

Gene: SLC3A1

Alternate names for this Gene: ATR1|CSNU1|D2H|NBAT|RBAT

Gene Summary: This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.

Gene is located in Chromosome: 2

Location in Chromosome : 2p21

Description of this Gene: solute carrier family 3 member 1

Type of Gene: protein-coding

rs121912695 in PREPL;SLC3A1 gene and Cystinuria PMID 7575432 1995 Mutations of the basic amino acid transporter gene associated with cystinuria.

PMID 19782624 2010 Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

PMID 7573036 1995 Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.

PMID 16138908 2005 Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

PMID 7539209 1995 Mutations in the SLC3A1 transporter gene in cystinuria.

PMID 16609684 2006 A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.

PMID 12234283 2002 Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.

PMID 9186880 1997 Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria.

PMID 21863055 2012 Clinical utility gene card for: Cystinuria.

PMID 10738006 2000 Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics.

PMID 11748844 2001 Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.

PMID 15635077 2005 New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

PMID 8054986 1994 Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine.

PMID 22493502 2012 Carrier subunit of plasma membrane transporter is required for oxidative folding of its helper subunit.

PMID 28717662 2017 Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

PMID 26537754 2016 The role of N-glycans and the C-terminal loop of the subunit rBAT in the biogenesis of the cystinuria-associated transporter.

PMID 20517292 2010 Pathophysiology and treatment of cystinuria.