| Type | Description |
|---|---|
| Definition | male germ cell associated kinase |
| Date | Results | Publications |
|---|---|---|
| 2019-08-17 12:00:00 | The clinical data show that in general, patients with biallelic MAK mutations had a later age of onset and a milder retinal phenotype compared with patients with biallelic DHDDS mutations. | 29276052 |
| 2019-03-30 10:23:00 | The natural history of this individual's retinitis pigmentosa (RP) is consistent with previously described MAK mutations, being significantly milder than that associated with other photoreceptor ciliopathies. We suggest inclusion of MAK as part of wider genetic testing in all individuals presenting with RP. | 29781741 |
| 2017-11-11 12:42:00 | We report the first case of leaking intraretinal cystoid spaces due to mutation in MAK. Mak regulates microtubule stability via phosphorylating RP1. Abnormal Mak may impact retinal photoreceptor ciliary length and subcompartmentalization. | 26894652 |
| 2016-07-02 11:46:00 | One patient was homozygous for the insertion, one compound heterozygous with a missense change on the other allele (c. 46G>A; p.Gly16Arg), and three were heterozygous carriers. | 26558903 |
| 2015-12-19 12:02:00 | We identified the MAK and DHDDS mutations homozygously in only 2.1% and 0.8%, respectively, of patients of mixed ethnicity, but in 25.7% and 8.6%, respectively, of cases reporting Jewish ancestry | 25255364 |
| Type | IDs |
|---|---|
| Synonymous | RP62 |
| Gene |
UniProtKB-ID:
MAK_HUMAN,
F8VBW7_HUMAN,
A0A140VK28_HUMAN
UniprotKB:
P20794,
F8VBW7,
A0A140VK28
UniParc:
UPI00003FCD6A,
UPI000217BC83,
UPI000217CBBA,
UPI0000001BCD
EMBL:
JN135248,
M35863,
AB593146,
CH471087,
JN226411,
HM005568,
AF505623,
AL024498
Ensembl:
ENSG00000111837
KO:
hsa:4117
|
| Nucleutide sequences |
EMBL-CDS:
AAN16405.1,
EAW55283.1,
AAA36195.1,
BAJ84080.1,
AEL29206.1,
AEJ36294.1,
AEE61165.1
Ensembl_TRS:
ENST00000354489,
ENST00000313243,
ENST00000474039,
ENST00000536370
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000313021,
ENSP00000442221,
ENSP00000476067,
ENSP00000346484
RefSeq:
XP_011512924.1,
XP_016866355.1,
NP_001229886.1,
NP_005897.1,
XP_011512923.1,
XP_011512922.1,
NP_001229314.1,
NP_001364191.1,
XP_024302212.1,
XP_024302211.1,
XP_011512926.1,
XP_011512921.1
|
| Others |
UniRef100:
UniRef100_A0A2J8WMY6,
UniRef100_P20794
UniRef90:
UniRef90_P20794,
UniRef90_P20794-2
UniRef50:
UniRef50_P20794
UniGene:
Hs.446125
CCDS:
CCDS75398.1,
CCDS75399.1,
CCDS4516.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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