MAK

Chr 6p24.2

male germ cell associated kinase

Aliases:: dJ417M14.2, RP62
MANE:: ENST00000354489.7

OMIM: 154235 ↗NCBI: 4117 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

MAK · P20794

v62025-08-01

Predicted Aligned Error matrix for MAK — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.1/ 100

Low

623 residues

Confidence breakdown

Very high(≥ 90)36%
Confident(70–90)9%
Low(50–70)4%
Very low(< 50)52%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Glaucoma (developmental)
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

retinitis pigmentosa
0.78
retinitis pigmentosa 62
0.69
Retinal dystrophy
0.53
MAK-related retinopathy
0.44
Alzheimer disease
0.41
eye disorder
0.37
Posterior column ataxia - retinitis pigmentosa
0.37
Parkinson disease
0.35
lysosomal storage disease
0.35
neurodegenerative disease
0.35

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Serine/threonine-protein kinase MAK

Essential for the regulation of ciliary length and required for the long-term survival of photoreceptors (By similarity). Phosphorylates FZR1 in a cell cycle-dependent manner. Plays a role in the transcriptional coactivation of AR. Could play an important function in spermatogenesis. May play a role in chromosomal stability in prostate cancer cells