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TTC7A information


TTC7A
Identifiers
AliasesTTC7A, MINAT, TTC7, GIDID, tetratricopeptide repeat domain 7A
External IDsOMIM: 609332; MGI: 1920999; HomoloGene: 12515; GeneCards: TTC7A; OMA:TTC7A - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001288951
NM_001288953
NM_001288955
NM_020458

NM_028639

RefSeq (protein)

NP_001275880
NP_001275882
NP_001275884
NP_065191

NP_082915
NP_001391016
NP_001391017

Location (UCSC)Chr 2: 46.92 – 47.08 MbChr 17: 87.59 – 87.69 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Tetratricopeptide repeat domain 7A (TTC7A) is a protein that in humans is encoded by the TTC7A gene.[5]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000068724 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036918 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Tetratricopeptide repeat domain 7A".

and 7 Related for: TTC7A information

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TTC7A

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Tetratricopeptide repeat domain 7A (TTC7A) is a protein that in humans is encoded by the TTC7A gene. TPR domain-containing proteins, such as TTC7A, have diverse functions...

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Chromosome 2

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protein 150A TP53I3: Putative quinone oxidoreducatse TPO: thyroid peroxidase TTC7A: familial multiple intestinal atresia WBP1: WW domain-binding protein 1...

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Familial multiple intestinal atresia

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The underlying lesion in this condition appears to be a mutation in the TTC7A gene. This gene is located on the short arm of chromosome 2 (2p16). This...

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Aleixo Muise

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notably, Muise identified a novel form of VEOIBD related to mutations in the TTC7A gene and described potential treatments for this incurable disease. He has...

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Intestinal atresia

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disorder was first reported in 1971. It is due to a mutation in the gene TTC7A on short arm of chromosome 2 (2p16). It is inherited as an autosomal recessive...

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List of primary immunodeficiencies

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Transcobalamin 2 deficiency Immunodeficiency with multiple intestinal atresias (TTC7A deficiency) Hepatic venoocclusive disease with immunodeficiency (VODI) Vici...

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Tetratricopeptide repeat

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TMTC1, TMTC2, TMTC3, TMTC4, TOMM34, TOMM70A TTC1, TTC3, TTC4, TTC5, TTC6, TTC7A, TTC7B, TTC8, TTC9C, TTC12, TTC13, TTC14, TTC15, TTC16, TTC17, TTC18, TTC21A...

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