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 (10)

Species Source
Chimp OMA EggNOG Inparanoid
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Cow OMA Inparanoid
Opossum OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid
Fruitfly OMA 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
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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.
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