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- Table of Contents
Facts about Adrenocortical dysplasia protein homolog.
With no protective action, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Promotes binding of POT1 into single-stranded telomeric DNA.
Human | |
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Gene Name: | ACD |
Uniprot: | Q96AP0 |
Entrez: | 65057 |
Belongs to: |
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No superfamily |
adrenocortical dysplasia homolog (mouse); Pip1; PIP1Tint1; POT1 and TIN2 organizing protein; POT1 and TIN2-interacting protein; Ptop; PTOPTpp1; TIN2 interacting protein 1; TINT1adrenocortical dysplasia protein homolog; TPP1
Mass (kDA):
48.967 kDA
Human | |
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Location: | 16q22.1 |
Sequence: | 16; NC_000016.10 (67657512..67660832, complement) |
Nucleus. Chromosome, telomere.
PMID: 15181449 by Liu D., et al. PTOP interacts with POT1 and regulates its localization to telomeres.
PMID: 15537664 by Keegan C.E., et al. Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator.