LMBR1 - limb development membrane protein 1 Gene

Also Known as LSS; TPT; ZRS; ACHP; PPD2; THYP; DIF14; TPTPS; C7orf2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 64327

About LMBR1

Cytogenetic location: 7q36.3 Genomic coordinates (GRCh38): 7:156,669,012-156,893,183 (from NCBI)

This gene has 20 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 11 phenotypes. Ubiquitous expression in testis (RPKM 9.4), adrenal (RPKM 8.4) and 25 other tissues.

Summary

This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic Hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic Hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic Hedgehog expression. [provided by RefSeq, Jul 2008]

LMBR1 Products (12)

mRNA	Protein	Name
NM_001350953.2	NP_001337882.1	limb region 1 protein homolog isoform a
NM_001350954.2	NP_001337883.1	limb region 1 protein homolog isoform c
NM_001350955.2	NP_001337884.1	limb region 1 protein homolog isoform d precursor
NM_001350956.2	NP_001337885.1	limb region 1 protein homolog isoform d precursor
NM_001350957.2	NP_001337886.1	limb region 1 protein homolog isoform e
NM_001350958.2	NP_001337887.1	limb region 1 protein homolog isoform f precursor
NM_001363409.2	NP_001350338.1	limb region 1 protein homolog isoform g
NM_001363410.2	NP_001350339.1	limb region 1 protein homolog isoform h
NM_001363411.2	NP_001350340.1	limb region 1 protein homolog isoform i
NM_001363412.2	NP_001350341.1	limb region 1 protein homolog isoform j
NM_001363413.2	NP_001350342.1	limb region 1 protein homolog isoform d precursor
NM_022458.4	NP_071903.2	limb region 1 protein homolog isoform b

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LMBR1 Protein Structure

LMBR1

0
100
200
300
400
490 a.a.

Protein Preferred Names	Protein Names
limb region 1 protein homolog	differentiation-related gene 14 protein

Related Diseases

Diseases	Alias
Acheiropody	Acheiropodia ACHP Acheiropody, Brazilian Type Horn-Kolb Syndrome Horn Kolb Syndrome Acheiropody Brazilian Type
Laurin-Sandrow Syndrome	Sandrow Syndrome Tetramelic Mirror-Image Polydactyly Mirror-Image Polydactyly Mirror Hands And Feet With Nasal Defects Tmip LSS Mip Mirror Hands And Feets-Nasal Defects Syndrome Fibula And Ulna, Duplication Of, With Absence Of Tibia And Radius Miccor Hands And Feet With Nasal Defects Mipduplication Of Fibuland Ulna With Absence Of Tibia And Radius Fibula Ulna Duplication Tibia Radius Absence Laurin Sandrow Syndrome Duplication Of Fibula And Ulna With Absence Of Tibia And Radius Segmental Laurin-Sandrow Syndrome Laurin-Sandrow Syndrome, Segmental
Syndactyly, Type Iv	Syndactyly Type 4 Polysyndactyly, Haas Type SDTY4 Haas Type Syndactyly Sd4 Polysyndactyly Type Haas Syndactyly 4 Polysyndactyly Haas Type Syndactyly Type Iv
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Hypoplastic Or Aplastic Tibia With Polydactyly Absence Of Tibia With Polydactyly Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome THYP Tibial Hemimelia-Polydactyly-Triphalangeal Thumbs With Fibular Dimelia Absent Tibia-Polydactyly Syndrome Werner Mesomelic Syndrome Hypoplastic Tibiae-Postaxial Polydactyly Syndrome Polydactyly With Absent Tibia Werner Mesomelic Spectrum Hypoplasia Or Aplasia Of Tibia With Polydactyly Wms Tibia, Hypoplasia Of, With Polydactyly
Polydactyly, Preaxial Ii	PPD2 Polydactyly Of A Triphalangeal Thumb Polydactyly, Preaxial Type Ii Triphalangeal Thumb, Type I Preaxial Polydactyly Type 2 Triphalangeal Thumb-Polysyndactyly Syndrome Polydactyly Of Triphalangeal Thumb Triphalangeal Thumb-Polydactyly Syndrome Preaxial Polydactyly 2 TPTPS Polydactyly, Preaxial, Type Ii
Triphalangeal Thumb With Polysyndactyly	Triphalangeal Thumb-Polysyndactyly Syndrome Tpt-Ps Syndrome TPTPS
Radial Hemimelia	Radial Clubhand Congenital Longitudinal Deficiency Of The Radius Radial Longitidinal Meromelia Radial Ray Agenesis Radial Club Hand Longitudinal Reduction Defect Of Radius Agenesis Of Radial Ray Agenesis Of Radius Congenital Absence Of Radius Congenital Absence Of Radius With Or Without Absence Of Some Distal Elements Congenital Absence Of Radius With Or Without Absence Of Some, But Not All, Distal Elements Congenital Club Hand Congenital Clubhand Congenital Short Radius Manus Vara Talipomanus Total Radial Absence
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Acropectoral Syndrome	Acrp Syndrome ACRPS Dundar Acropectoral Syndrome Syndactyly, Preaxial Polydactyly, And Sternal Deformity Acro-Pectoral Syndrome Syndactyly, Preaxial Polydactyly And Sternal Deformity Syndactyly-Preaxial Polydactyly-Sternal Deformity Syndrome
Syndactyly, Type Iii	Syndactyly Type 3 SDTY3 Ring And Little Finger Syndactyly Syndactyly Of Fingers Iv And V Syndactyly Of Fingers 4 And 5 Ringand Little Finger Syndactyly Syndactyly Of Fingers Four And Five Syndactyly Of The Ring And Little Finger Sd3 Syndactyly 3 Syndactyly Type Iii 4-5 Finger Syndactyly Syndactyly, Type 3
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Metacarpal 4-5 Fusion	Syndactyly Type 8 MF4 Fusion Of Metacarpals 4 And 5 Metacarpals 4 And 5 Fusion Metacarpal 4 5 Fusion
Acquired Color Blindness	Acquired Color Vision Deficiencies Acquired Color Vision Deficiency Acquired Colour Blindness Acquired Colour Vision Deficiencies Acquired Colour Vision Deficiency
Coenzyme Q10 Deficiency, Primary, 2	Deafness-Encephaloneuropathy-Obesity-Valvulopathy Syndrome COQ10D2 Primary Coenzyme Q10 Deficiency 2 Hearing Loss-Encephaloneuropathy-Obesity-Valvulopathy Syndrome Coenzyme Q10 Deficiency, Primary, Type 2
Greig Cephalopolysyndactyly Syndrome	GCPS Polysyndactyly With Peculiar Skull Shape Polysyndactyly With Peculiars Skull Shape Greig Syndrome Cephalopolysyndactyly Syndrome Greig Cephalo-Poly-Syndactyly Syndrome Cephalopolysyndactyly, Greig Syndrome Aarskog Syndrome
Spondyloepimetaphyseal Dysplasia, X-Linked	X-Linked Spondyloepimetaphyseal Dysplasia SEMDX Semd, X-Linked Semd X-Linked Spondyloepimetaphyseal Dysplasia X-Linked Spondylo-Epimetaphyseal Dysplasia
Cleft Palate, Cardiac Defects, And Mental Retardation	Cardiac Malformation, Cleft Lip/Palate, Microcephaly, And Digital Anomalies CPCMR Cleft Palate, Cardiac Defects, And Intellectual Disabillity Cleft Palate, Cardiac Defects, And Intellectual Disability Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies
Synpolydactyly	Syndactyly Type 2 Syndactyly, Type 2 Spd
Brachydactyly-Syndactyly Syndrome	BDSD Brachydactyly-Syndactyly-Oligodactyly Syndrome Brachydactyly-Syndactyly, Zhao Type BDSDO
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Fuhrmann Syndrome Bowing Of The Femurs, Aplasia Or Hypoplasia Of The Fibula, And Digital Anomalies Fibular Hypoplasia Or Aplasia-Femoral Bowing-Oligodactyly Syndrome Fuhrmann-Rieger-De Sousa Syndrome FUHRS Fibular Aplasia Hypoplasia Femoral Bowing And Poly- Syn- And Oligodactyly
Adie Pupil	Adie Syndrome Holmes-Adie Syndrome Poorly Reacting Pupils Adie'S Pupil Or Syndrome Adie'S Pupil Syndrome Adie'S Syndrome Adie'S Pupil Has Tonic, Sluggishly Reacting Pupil And Hypoactive Or Absent Tendon Reflexes Tonic Pupil-Tendon Areflexia Syndrome ADIEP Tonic Pupil
Synostosis
Currarino Syndrome	Currarino Triad Partial Sacral Agenesis With Intact First Sacral Vertebra, Presacral Mass And Anorectal Malformation CURRAS
Chromosomal Duplication Syndrome
Acrocallosal Syndrome	ACLS Schinzel Acrocallosal Syndrome Joubert Syndrome 12 Schinzel Syndrome 1 Acrocallosal Syndrome, Schinzel Type Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum Acs Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum JBTS12 Acrocallosal Syndrome
Dysostosis	Dysostoses
Pallister-Hall Syndrome	PHS Hypothalamic Hamartomas Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly Hypothalamic Hamartoblastoma Syndrome Hamartoma Of The Hypothalamus Pallister Hall Syndrome Hall-Pallister Syndrome Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly Hamartoma, Hypothalamic
Bone Development Disease
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07706	LMBR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07707	LMBR1L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21880	Lmbr1l Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28397	Lmbr1l Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	LMBR1	MGD	MGI:1861746
Canis familiaris	LMBR1	VGNC	VGNC:42710
Rattus norvegicus	LMBR1	RGD	RGD:1563910
Felis catus	LMBR1	VGNC	VGNC:80610
Macaca mulatta	LMBR1	VGNC	VGNC:74276
Bos taurus	LMBR1	VGNC	VGNC:30922
Others	LMBR1	NCBI