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- Table of Contents
Facts about T-box transcription factor TBX5.
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Human | |
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Gene Name: | TBX5 |
Uniprot: | Q99593 |
Entrez: | 6910 |
Belongs to: |
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No superfamily |
HOS; T-box 5; T-box protein 5; T-box transcription factor TBX5; TBX5
Mass (kDA):
57.711 kDA
Human | |
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Location: | 12q24.21 |
Sequence: | 12; NC_000012.12 (114353911..114408708, complement) |
Nucleus. Cytoplasm. Shuttles between the cytoplasm and the nucleus. Acetylation at Lys-339 promotes nuclear retention.
PMID: 8988164 by Li Q.Y., et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.
PMID: 8988165 by Basson C.T., et al. Mutations in human TBX5 cause limb and cardiac malformation in Holt- Oram syndrome.