LMBR1 gene

limb development membrane protein 1

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

From NCBI 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. [provided by RefSeq, Jul 2008]

From UniProt:

Putative membrane receptor.

From NCBI Gene:

  • Laurin-Sandrow syndrome
  • Polydactyly, preaxial II
  • Syndactyly, type IV
  • Acheiropodia
  • Tibia, hypoplasia or aplasia of, with polydactyly

From UniProt:

Hypoplasia or aplasia of tibia with polydactyly (THYP): An autosomal dominant disease characterized by hypoplastic or absent tibia, and polydactyly. [MIM:188740]

Preaxial polydactyly 2 (PPD2): Polydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal. [MIM:174500]

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. [MIM:200500]

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. [MIM:186200]

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). [MIM:135750]

Cytogenetic Location: 7q36.3, which is the long (q) arm of chromosome 7 at position 36.3

Molecular Location: base pairs 156,669,012 to 156,893,208 on chromosome 7 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 7q36.3, which is the long (q) arm of chromosome 7 at position 36.3
  • ACHP
  • C7orf2
  • DIF14
  • LSS
  • PPD2
  • THYP
  • TPT
  • ZRS