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Genetics Home Reference: your guide to understanding genetic conditions
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LMBR1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the LMBR1 gene?

The official name of this gene is “limb development membrane protein 1.”

LMBR1 is the gene's official symbol. The LMBR1 gene is also known by other names, listed below.

What is the normal function of the LMBR1 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/64327):

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]

From UniProt (LMBR1_HUMAN) (http://www.uniprot.org/uniprot/Q8WVP7):

Putative membrane receptor.

How are changes in the LMBR1 gene related to health conditions?

UniProt (LMBR1_HUMAN) (http://www.uniprot.org/uniprot/Q8WVP7) provides the following information about the LMBR1 gene's known or predicted involvement in human disease.

Preaxial polydactyly 2 (PPD2): Polydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal. The disease is caused by mutations affecting the gene represented in this entry. Disease-causing mutations are located in intron 5 of LMBR1. The mutations do not alter normal LMBR1 expression and function, but disrupt a long-range, cis-regulatory element of SHH expression contained in LMBR1 intron 5, known as ZPA regulatory sequence (ZRS).

Acheiropody (ACHP): Very rare condition characterized by bilateral congenital amputations of the hands and feet. The specific malformative phenotype consists of a complete amputation of the distal epiphysis of the humerus, amputation of the tibial diaphysis and aplasia of the radius, ulna, fibula and of all the bones of the hands and feet. The disease is caused by mutations affecting the gene represented in this entry.

Syndactyly 4 (SDTY4): A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. SDTY4 is characterized by complete bilateral syndactyly (involving all digits 1 to 5). A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally. The disease is caused by mutations affecting the gene represented in this entry. Disease-causing mutations consists of duplications (89-589 kb) involving the ZPA regulatory sequence (ZRS), a SHH long-range cis-regulatory element, located in LMBR1 intron 5. The mutations do not alter normal LMBR1 expression and function, but affect SHH limb expression.

Hypoplasia or aplasia of tibia with polydactyly (THYP): An autosomal dominant disease characterized by hypoplastic or absent tibia, and polydactyly. The disease is caused by mutations affecting the gene represented in this entry. Disease-causing mutations are located in intron 5 of LMBR1. The mutations do not alter normal LMBR1 expression and function, but disrupt a long-range, cis-regulatory element of SHH expression contained in LMBR1 intron 5.

Laurin-Sandrow syndrome (LSS): A rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia. Some patients do not have nasal abnormalities (segmental Laurin-Sandrow syndrome). The disease is caused by mutations affecting the gene represented in this entry. Disease-causing mutations consists of duplications (16-75 kb) involving the ZPA regulatory sequence (ZRS), a SHH long-range cis-regulatory element, located in LMBR1 intron 5. The mutations do not alter normal LMBR1 expression and function, but affect SHH limb expression.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/64327) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the LMBR1 gene.
  • Acheiropodia
  • Laurin-Sandrow syndrome
  • Preaxial polydactyly 2
  • SYNDACTYLY, TYPE IV
  • Tibia, hypoplasia of, with polydactyly
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the LMBR1 gene and its association with health conditions.
OMIM
Number
Title

Where is the LMBR1 gene located?

Cytogenetic Location: 7q36

Molecular Location on chromosome 7: base pairs 156,668,946 to 156,893,208

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/64327))

The LMBR1 gene is located on the long (q) arm of chromosome 7 at position 36.

The LMBR1 gene is located on the long (q) arm of chromosome 7 at position 36.

More precisely, the LMBR1 gene is located from base pair 156,668,946 to base pair 156,893,208 on chromosome 7.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about LMBR1?

You and your healthcare professional may find the following resources about LMBR1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the LMBR1 gene or gene products?

  • ACHP
  • C7orf2
  • DIF14
  • LSS
  • PPD2
  • THYP
  • TPT
  • ZRS

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding LMBR1?

autosomal ; autosomal dominant ; bilateral ; congenital ; diaphysis ; distal ; duplication ; epiphysis ; gene ; humerus ; hypoplasia ; intron ; kb ; phenotype ; polydactyly ; protein ; receptor ; syndactyly ; syndrome ; transmembrane ; ulna

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: February 1, 2016