LMBR1

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]

Description

Limb development membrane protein 1

Tissue specificity

Low tissue specificity

Subcell location

Cytosol

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

7 (156668946 - 156893216)

Ensembl ID

ENSG00000105983  (ver. 103.38)

Orthologs

Mouse Lmbr1: ENSMUSG00000010721

UniProt

Q8WVP7

neXtProt

NX_Q8WVP7

Human splice variants
Mouse splice variants

Protein structure