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Peptide sequence: EELTAFVSKS FDQKVKEKKE AITYREVLES GPLRGAKEPT GCTEAGRDDR
Sequence homology: Cow: 100%; Dog: 100%; Guinea Pig: 100%; Human: 100%; Mouse: 100%; Rat: 100%; Zebrafish: 93%
SHOX2 is a member of the homeo box family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeo box genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeo box genes. SHOX is a pseudoautosomal homeo box gene that is thought to be responsible for idiopathic short stature and implicated to play a role in the short stature phenotype of Turner syndrome patients. This gene is a member of the homeo box family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeo box genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeo box genes. SHOX is a pseudoautosomal homeo box gene that is thought to be responsible for idiopathic short stature and implicated to play a role in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing has been observed at this locus and two variants, each encoding a distinct isoform, have been identified.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Homeobox protein Og12X; OGI2X; Paired-related homeobox protein SHOT; Short stature homeobox protein 2; SHOX homologous gene on chromosome 3
基因别名: OG12; OG12X; SHOT; SHOX2
UniProt ID: (Human) O60902
Entrez Gene ID: (Human) 6474