MIPOL1
Mirror-Image Polydactyly 1 Gene
Gene Information Card
| Symbol | MIPOL1 |
|---|---|
| Full Name | mirror-image polydactyly 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q13.3 |
| NCBI Gene ID | 145282 ncbi.nlm.nih.gov/gene/145282 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q8NFP9 |
| OMIM ID | 606850 |
| HGNC ID | 24521 |
| Aliases | C14orf106, FLJ22662, MIRROR |
Description
MIPOL1 (mirror-image polydactyly 1) is a protein-coding gene located on chromosome 14q13.3. It is associated with autosomal dominant mirror-image polydactyly, a congenital limb malformation characterized by duplication of digits in a mirror-image pattern. The gene encodes a protein of unknown function, but mutations in MIPOL1 are linked to abnormal limb development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mirror-image polydactyly | Heterozygous mutations in MIPOL1 disrupt normal limb patterning, leading to digit duplication in a mirror-image orientation. | OMIM #606850; multiple families with linkage to 14q13.3 and identified missense/nonsense mutations. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 4.2 | Low |
| Brain | 2.1 | Low |
| Lung | 1.5 | Not detected |
| Liver | 0.8 | Not detected |
| Kidney | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 3.5 | Low expression |
| HeLa | 2.0 | Low expression |
| K562 | 1.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.127C>T (p.Arg43Ter) | Nonsense | Rare | Loss of function; associated with mirror-image polydactyly |
| c.346G>A (p.Gly116Arg) | Missense | Rare | Likely pathogenic; disrupts protein function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg43Ter) lead to premature truncation and loss of protein function, causing mirror-image polydactyly.
Gain of Function (GOF)
No evidence for gain-of-function mutations in MIPOL1.
Dominant Negative (DN)
No evidence for dominant-negative effects; haploinsufficiency is the proposed mechanism.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • multicellular organism development (GO:0007275) |
Pathways
• No curated pathways in Reactome or KEGG.
Protein Summary
The MIPOL1 protein (UniProt Q8NFP9) is 654 amino acids long with no characterized domains. It is predicted to be cytoplasmic and may play a role in limb development. Its exact molecular function remains unknown.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MIPOL1 Knockout HEK293 Cell Line | EDJ-KQ10436 | Human | 145282 | Details Get a Quote |
| MIPOL1 Knockout A-549 Cell Line | EDJ-KQ37808 | Human | 145282 | Details Get a Quote |
| MIPOL1 Knockout HCT 116 Cell Line | EDJ-KQ37809 | Human | 145282 | Details Get a Quote |
| MIPOL1 Knockout HeLa Cell Line | EDJ-KQ37810 | Human | 145282 | Details Get a Quote |
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