LMBR1

Identifiers

Aliases

LMBR1, ACHP, C7orf2, DIF14, PPD2, TPT, ZRS, LSS, THYP, limb development membrane protein 1

External IDs

MGI: 1861746 HomoloGene: 49706 GeneCards: LMBR1

Orthologs

Species

Human

Mouse

Entrez


64327


56873

Ensembl


ENSG00000105983


ENSMUSG00000010721

UniProt


Q8WVP7


Q9JIT0

RefSeq (mRNA)

NM_022458 NM_001350953 NM_001350954 NM_001350955 NM_001350956
NM_001350957 NM_001350958


NM_020295

RefSeq (protein)

NP_071903 NP_001337882 NP_001337883 NP_001337884 NP_001337885
NP_001337886 NP_001337887


NP_064691

Location (UCSC)

Chr 7: 156.67 – 156.89 Mb

Chr 5: 29.23 – 29.38 Mb

PubMed search

NM_001350957
NM_001350958

NM_020295

NP_001337886
NP_001337887

NP_064691

Limb region 1 protein homolog is a protein that in humans is encoded by the LMBR1 gene.

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.

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Wikipedia