Property Summary

NCBI Gene PubMed Count 32
PubMed Score 241.61
PubTator Score 53.15

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q8WVP7 A4D242 Q8N3E3 Q96QZ5 Q9H5N0 Q9HAG9 Q9UDN5 Q9Y6U2
Symbols LSS
TPT
ZRS
ACHP
PPD2
THYP
DIF14
C7orf2

Gene

PANTHER Protein Class (1)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG Inparanoid

Pathway (1)

Gene RIF (11)

PMID Text
24777739 A novel ZRS mutation found in the Mexican population, 402C>T, suggests that a dosage effect exists for this mutation.
24478176 Data describe extensive variation in limb phenotype in a large family and report on a novel sequence variation NG_009240.1: g.106737G>T (traditional nomenclature: ZRS404G>T) in the ZRS within the LMBR1 gene.
23793141 Review of the literature and cases in a Chinese family confirm genetic homogeneity (duplication of ZRS wintin intron 5 of LMBR1) of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome.
22786669 report of a new point mutation within the ZRS in a family with digit malformations including triphalangeal thumb, pre-axial polydactyly and post-axial polydactyly; heterozygous C>A mutation at position 287 of the ZRS enhancer was detected in all affected subjects and is absent from four unaffected family members
22495965 A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20068592 Effect on transcription factor binding of a novel ZRS point mutation (463T>G) in a Pakistani family with preaxial polydactyly and triphalangeal thumb.
18698406 Intron 5 of LMBR1 was presumably subject to balancing selection during the evolution of modern human of various racial stocks.
17300748 C to T transition in LMBR1 results in the dysregulation of sonic hedgehog, which leads to the triphalangeal thumb-polysyndactyly syndrome found in this case
12491086 disruption is associated with preaxial polydactyly
12032320 mutation causes preaxial polydactyly

AA Sequence

MEGQDEVSAREQHFHSQVRESTICFLLFAILYVVSYFIITRYKRKSDEQEDEDAIVNRISLFLSTFTLAV      1 - 70
SAGAVLLLPFSIISNEILLSFPQNYYIQWLNGSLIHGLWNLASLFSNLCLFVLMPFAFFFLESEGFAGLK     71 - 140
KGIRARILETLVMLLLLALLILGIVWVASALIDNDAASMESLYDLWEFYLPYLYSCISLMGCLLLLLCTP    141 - 210
VGLSRMFTVMGQLLVKPTILEDLDEQIYIITLEEEALQRRLNGLSSSVEYNIMELEQELENVKTLKTKLE    211 - 280
RRKKASAWERNLVYPAVMVLLLIETSISVLLVACNILCLLVDETAMPKGTRGPGIGNASLSTFGFVGAAL    281 - 350
EIILIFYLMVSSVVGFYSLRFFGNFTPKKDDTTMTKIIGNCVSILVLSSALPVMSRTLGITRFDLLGDFG    351 - 420
RFNWLGNFYIVLSYNLLFAIVTTLCLVRKFTSAVREELFKALGLHKLHLPNTSRDSETAKPSVNGHQKAL    421 - 490
//

Text Mined References (38)

PMID Year Title
24965254 2014 ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers.
24777739 2014 A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.
24478176 2014 A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.
24456159 2014 Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.
23793141 2013 Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22786669 2012 A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly.
22495965 2012 A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.
20446115 2011 LMBRD1: the gene for the cblF defect of vitamin B?? metabolism.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20068592 2010 Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS.
19847792 2010 A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.
19136951 2009 Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.
18698406 2008 Intriguing balancing selection on the intron 5 region of LMBR1 in human population.
18417549 2008 Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17300748 2007 A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family.
17152067 2007 Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14727139 2004 Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog ( Shh).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12853948 2003 The DNA sequence of human chromosome 7.
12837695 2003 A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12491086 2003 Disruption of the C7orf2/Lmbr1 genic region is associated with preaxial polydactyly in humans and mice.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12032320 2002 Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.
11606546 2001 Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1.
11333865 2001 A novel acropectoral syndrome maps to chromosome 7q36.
11090342 2001 Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene.
11076863 2000 DNA cloning using in vitro site-specific recombination.
10945466 2000 A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice.
10329000 1999 A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36.
9847074 1998 Toward a complete human genome sequence.
8533803 1995 Linkage of preaxial polydactyly type 2 to 7q36.