LMBR1

GENE INFORMATION

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Gene name

LMBR1 (HGNC Symbol)

Synonyms

ACHP, C7orf2, FLJ11665, ZRS

Description

Limb development membrane protein 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

7

Cytoband

q36.3

Chromosome location (bp)

156668946 - 156893230

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000105983 (version 78.38)

Entrez gene

64327

UniProt

Q8WVP7 (UniProt - Evidence at protein level)

neXtProt

NX_Q8WVP7

Antibodypedia

LMBR1 antibodies
 

PROTEIN VIEW

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LMBR1-001
 
LMBR1-004
 
LMBR1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

LMBR1-001 ENSP00000326604
ENST00000353442
Q8WVP7
Show all »
Show » Show » 490 55.1 No 9
LMBR1-004 ENSP00000408256
ENST00000415428
H0Y6V6
Show all »
Show » 529 59.2 No 9
LMBR1-201 ENSP00000352392
ENST00000359422
Q8NDP7
Show all »
Show » 284 31.5 Yes 4