Locus | | 7q11–q22 | | 7p15–13 | | 3q25.2–q27 |
Gene | |
KRIT1
| | MGC4607(malcavernin) | |
PDCD10
|
OMIM | | 604214 | | 603284 | | 603285 |
Mutation type | | Loss of function | | Loss of function? | | Loss of function? |
Second hit/trans-heterozygosity | | 1 Patient | | ? | | ? |
| | ? | | ? | | ? |
Molecular function | | Modulator of ICAP1α, malcavernin interaction, association with microtubules? | | KRIT1 interaction, scaffold for MEKK3 | | ? |
Cellular/tissue function | | Cell adhesion/migration, arterial morphogenesis/identity | | Osmoregulation ? | | Apoptosis? |
Clinical penetrance | | 62–88% | | ? | | ? |
References | | 12–15, 20, 24, 26, 28, 29, 40 | | 13, 21, 22, 26 | | 13, 23, 26 |