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Immunogen sequence: FTVMGQLLVK PTILEDLDEQ IYIITLEEEA LQRRLNGLSS SVEYNIMELE QELENVKTLK TKLERRKKAS AWERN
Highest antigen sequence identity to the following orthologs: Mouse - 93%, Rat - 93%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Differentiation-related gene 14 protein; FLJ11665; limb region 1 homolog; Limb region 1 protein homolog
Gene Aliases: ACHP; C7orf2; DIF14; LMBR1; LSS; PPD2; THYP; TPT; ZRS
UniProt ID: (Human) Q8WVP7
Entrez Gene ID: (Human) 64327
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