LMBR1

Limb region 1 protein homolog is a protein that in humans is encoded by the LMBR1 gene.^[5][6][7]

LMBR1
Identifiers
Aliases	LMBR1, ACHP, C7orf2, DIF14, PPD2, TPT, ZRS, LSS, THYP, limb development membrane protein 1
External IDs	OMIM: 605522; MGI: 1861746; HomoloGene: 49706; GeneCards: LMBR1; OMA:LMBR1 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q36.3 Start 156,668,946 bp[1] End 156,893,216 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 B1|5 14.81 cM Start 29,434,800 bp[2] End 29,583,388 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve Achilles tendon bone marrow cells right adrenal cortex left adrenal gland left adrenal cortex epithelium of colon ganglionic eminence islet of Langerhans smooth muscle tissue Top expressed in spermatid spermatocyte Rostral migratory stream substantia nigra primary oocyte nucleus accumbens interventricular septum secondary oocyte Paneth cell Temporal Lobe More reference expression data BioGPS n/a
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_001363409 NM_001363410 NM_001363411 NM_001363412 NM_001363413 NM_020295 RefSeq (protein) NP_071903 NP_001337882 NP_001337883 NP_001337884 NP_001337885 NP_001337886 NP_001337887 NP_001350338 NP_001350339 NP_001350340 NP_001350341 NP_001350342 NP_064691 Location (UCSC) Chr 7: 156.67 – 156.89 Mb Chr 5: 29.43 – 29.58 Mb PubMed search [3] [4]
Wikidata
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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 (protein) 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 if this gene functions directly in limb development is unknown. 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.^[7]