NHS

Chr Xp22.2-p22.13

NHS actin remodeling regulator

MANE:: ENST00000676302.1

OMIM: 300457 ↗NCBI: 4810 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

NHS · Q6T4R5

v62025-08-01

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

Mean pLDDT

43.4/ 100

Very low

1,651 residues

Confidence breakdown

Very high(≥ 90)4%
Confident(70–90)5%
Low(50–70)8%
Very low(< 50)83%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bilateral congenital or childhood onset cataracts
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

Nance-Horan syndrome
0.80
cataract 40
0.72
Total congenital cataract
0.53
hereditary disease
0.47
Developmental cataract
0.42
early-onset nuclear cataract
0.40
X-linked syndromic intellectual disability
0.34
abortion
0.30
neurodegenerative disease
0.28
syndromic microphthalmia
0.27

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

Protein function (UniProt)

Actin remodeling regulator NHS

May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial development