TTC7A
| Tetratricopeptide repeat domain 7A | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| Symbols | TTC7A ; MINAT; TTC7 | ||||||||
| External IDs | OMIM: 609332 HomoloGene: 12515 GeneCards: TTC7A Gene | ||||||||
| |||||||||
| Orthologs | |||||||||
| Species | Human | Mouse | |||||||
| Entrez | 57217 | 225049 | |||||||
| Ensembl | ENSG00000068724 | ENSMUSG00000036918 | |||||||
| UniProt | Q9ULT0 | Q8BGB2 | |||||||
| RefSeq (mRNA) | NM_001288951 | NM_028639 | |||||||
| RefSeq (protein) | NP_001275880 | NP_082915 | |||||||
| Location (UCSC) | Chr 2: 47.14 – 47.3 Mb | Chr 17: 87.28 – 87.38 Mb | |||||||
| PubMed search | |||||||||
Tetratricopeptide repeat domain 7A (TTC7A) is a protein that in humans is encoded by the TTC7A gene.
Function
TPR domain-containing proteins, such as TTC7A, have diverse functions in cell cycle control, protein transport, phosphate turnover, and protein trafficking or secretion, and they can act as chaperones or scaffolding proteins
Clinical significance
Mutations in this gene cause hereditary multiple intestinal atresia.[1][2]
References
External links
- TTC7A protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)