MIPOL1 A chromosomal aberration involving MIPOL1 is found in a patient with mirror-image polydactyly of hands and feet without other anomalies (MIP). Translocation t(2;14)(p23.3;q13). MIP is a very rare congenital anomaly characterized by mirror- image duplication of digits. MIP is occasionally associated with dimelia of the ulna and fibula, tibial and/or fibular hypoplasia, nasal abnormality and other malformations. Most MIP cases are sporadic, but very rare parent-child transmissions observed in familial cases suggest an autosomal mode of inheritance. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 12 C1|12 24.7 cM
Cellular Component:  nucleus
Molecular Function:  identical protein binding
Reference #:  Q3UUQ6 (UniProtKB)
Alt. Names/Synonyms: 1700081O04Rik; 6030439O22Rik; AU021838; AW536152; D12Ertd19e; MIPO1; Mipol1; mirror-image polydactyly gene 1 homolog (human); Mirror-image polydactyly gene 1 protein homolog; Uncharacterized protein
Gene Symbols: Mipol1
Molecular weight: 32,053 Da
Basal Isoelectric point: 6.18  Predict pI for various phosphorylation states
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MIPOL1

Protein Structure Not Found.

Cross-references to other databases:  STRING  |  BioGPS  |  Pfam  |  Phospho.ELM  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept