MACF1 Chromosome 1
Microtubule actin crosslinking factor 1
Upload your DNA to see your personal genotypes for variants in MACF1.
What This Gene Does
This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]
Gene Info
Gene Group
"EF-hand domain containing|Plakins|Spectrin repeat containing"
Locus Type
gene with protein product
Location
1p34.3
Ensembl
ENSG00000127603
Associated Conditions (14)
Inborn genetic diseases
Lissencephaly 9 with complex brainstem malformation
Abnormal corpus callosum morphology
MACF1-related disorder
Cervical cancer
Spectraplakinopathy type I
Clear cell carcinoma of kidney
Cleft palate
See cases
Skeletal dysplasia
Short stature
Lissencephaly with decussation defect
lissencephaly with brainstem hypoplasia
Lissencephaly
Key Variants
RS1170362213
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1190655274
Conflicting classifications of pathogenicity
Health Risk
RS1259154169
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1346714603
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138060421
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138390862
Conflicting classifications of pathogenicity
Lissencephaly 9 with complex brainstem malformation, Inborn genetic diseases, Lissencephaly 9 with complex brainstem malformation
Health Risk
RS138392909
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138819868
Conflicting classifications of pathogenicity
Abnormal corpus callosum morphology, MACF1-related disorder, Abnormal corpus callosum morphology
Health Risk
RS139258331
Conflicting classifications of pathogenicity
Inborn genetic diseases, Lissencephaly 9 with complex brainstem malformation, MACF1-related disorder
Health Risk
RS141023728
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141025026
Conflicting classifications of pathogenicity
Spectraplakinopathy type I, Inborn genetic diseases, Spectraplakinopathy type I
Health Risk
RS141334491
Conflicting classifications of pathogenicity
Health Risk
All Variants (107)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS377263950 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS529016471 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS534801018 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS554979175 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, MACF1-related disorder, Inborn genetic diseases |
| RS573837366 | Health Risk | Conflicting classifications of pathogenicity | Spectraplakinopathy type I, Lissencephaly 9 with complex brainstem malformation, Spectraplakinopathy type I |
| RS577233378 | Health Risk | Conflicting classifications of pathogenicity | See cases, Inborn genetic diseases, See cases |
| RS617368 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS747685515 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS747821144 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases |
| RS751454750 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752117651 | Health Risk | Conflicting classifications of pathogenicity | Skeletal dysplasia, Skeletal dysplasia |
| RS752466285 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754072174 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758180621 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758478864 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758748206 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS759316958 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS760522659 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS761190322 | Health Risk | Conflicting classifications of pathogenicity | Spectraplakinopathy type I, Spectraplakinopathy type I |
| RS763267162 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS763320493 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS764492632 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765563414 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767291598 | Health Risk | Conflicting classifications of pathogenicity | Lissencephaly 9 with complex brainstem malformation, Inborn genetic diseases, Lissencephaly 9 with complex brainstem malformation |
| RS768273900 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS768361857 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS769202456 | Health Risk | Conflicting classifications of pathogenicity | MACF1-related disorder, Inborn genetic diseases, MACF1-related disorder |
| RS769550602 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS769929928 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS770494502 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771081547 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771296302 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771527845 | Health Risk | Conflicting classifications of pathogenicity | Lissencephaly 9 with complex brainstem malformation, Inborn genetic diseases, Lissencephaly 9 with complex brainstem malformation |
| RS773000242 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778234716 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778790002 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778936558 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Lissencephaly 9 with complex brainstem malformation, Inborn genetic diseases |
| RS779141040 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779968751 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781095837 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS993910380 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1307065903 | Health Risk | Likely pathogenic | Lissencephaly 9 with complex brainstem malformation, Lissencephaly 9 with complex brainstem malformation |
| RS1644602877 | Health Risk | Likely pathogenic | Lissencephaly 9 with complex brainstem malformation, Lissencephaly 9 with complex brainstem malformation |
| RS2124125451 | Health Risk | Likely pathogenic | Lissencephaly 9 with complex brainstem malformation, Lissencephaly 9 with complex brainstem malformation |
| RS2148401189 | Health Risk | Likely pathogenic | Lissencephaly 9 with complex brainstem malformation, Lissencephaly 9 with complex brainstem malformation |
| RS2523048155 | Health Risk | Likely pathogenic | Lissencephaly 9 with complex brainstem malformation, Lissencephaly 9 with complex brainstem malformation |
| RS2523351526 | Health Risk | Likely pathogenic | Lissencephaly 9 with complex brainstem malformation, Lissencephaly 9 with complex brainstem malformation |
| RS2523390651 | Health Risk | Likely pathogenic | Lissencephaly 9 with complex brainstem malformation, Lissencephaly 9 with complex brainstem malformation |
| RS755081350 | Health Risk | Likely pathogenic | Short stature, Short stature |
| RS766558667 | Health Risk | Likely pathogenic | Lissencephaly 9 with complex brainstem malformation, Lissencephaly 9 with complex brainstem malformation |