tetratricopeptide repeat protein 7A isoform 1 [Homo sapiens]

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Articles about the TTC7A gene

Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation. [Genes (Basel). 2022]
Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation.
Diociaiuti A, Caruso R, Ricci S, De Vito R, Strocchio L, Castiglia D, Zambruno G, El Hachem M. Genes (Basel). 2022 May 4; 13(5). Epub 2022 May 4.
Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy. [Am J Surg Pathol. 2022]
Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy.
Dannheim K, Ouahed J, Field M, Snapper S, Raphael BP, Glover SC, Bishop PR, Bhesania N, Kamin D, Thiagarajah J, et al. Am J Surg Pathol. 2022 Jun 1; 46(6):846-853. Epub 2022 Jan 5.
A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency. [Front Immunol. 2021]
A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency.
Mou W, Yang S, Guo R, Fu L, Zhang L, Guo W, Du J, He J, Ren Q, Hao C, et al. Front Immunol. 2021; 12:759308. Epub 2021 Dec 15.

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Reference sequence information

RefSeq genomic sequence
See the genomic reference sequence for the TTC7A gene (NG_034143.2).
RefSeq mRNA
See reference mRNA sequence for the TTC7A gene (NM_001288951.2).
RefSeq protein isoforms
See 30 reference sequence protein isoforms for the TTC7A gene.

More about the TTC7A gene

This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early ...
Also Known As: GIDID, MINAT, TTC7

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GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
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protein-lysine N-methyltransferase EEF2KMT isoform X2 [Homo sapiens]
protein-lysine N-methyltransferase EEF2KMT isoform X2 [Homo sapiens]
gi|2462547817|ref|XP_054235717.1|

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Articles about the TTC7A gene

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More about the TTC7A gene

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