UniProt Protein Function: | TTC7A: 2 isoforms of the human protein are produced by alternative splicing. Chromosomal Location of Human Ortholog: 2p21 Disease: Intestinal Atresia, Multiple |
UniProt Protein Details: | |
NCBI Summary: | This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] |
UniProt Code: | Q9ULT0 |
NCBI GenInfo Identifier: | 572881956 |
NCBI Gene ID: | 57217 |
NCBI Accession: | NP_001275884.1 |
UniProt Secondary Accession: | Q9ULT0,Q6PIX4, Q8ND67, Q9BUS3 |
UniProt Related Accession: | Q9ULT0 |
Molecular Weight: | 16,049 Da |
NCBI Full Name: | tetratricopeptide repeat protein 7A isoform 4 |
NCBI Synonym Full Names: | tetratricopeptide repeat domain 7A |
NCBI Official Symbol: | TTC7A |
NCBI Official Synonym Symbols: | TTC7; MINAT |
NCBI Protein Information: | tetratricopeptide repeat protein 7A; TPR repeat protein 7A |
UniProt Protein Name: | Tetratricopeptide repeat protein 7A |
UniProt Synonym Protein Names: | |
Protein Family: | Tetratricopeptide repeat protein |
UniProt Gene Name: | TTC7A |
UniProt Entry Name: | TTC7A_HUMAN |