SGCA

Chr 17q21.33

sarcoglycan alpha

Aliases:: SCARMD1, LGMD2D, adhalin, DMDA2, A2
MANE:: ENST00000262018.8

OMIM: 600119 ↗NCBI: 6442 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

SGCA · Q16586

v62025-08-01

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

Mean pLDDT

80.0/ 100

Confident

387 residues

Confidence breakdown

Very high(≥ 90)48%
Confident(70–90)23%
Low(50–70)23%
Very low(< 50)7%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Acute rhabdomyolysis
BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability

Disease associations (Open Targets)

autosomal recessive limb-girdle muscular dystrophy type 2D
0.84
autosomal recessive limb-girdle muscular dystrophy
0.67
Abnormality of the musculature
0.50
sarcoglycanopathy
0.50
limb-girdle muscular dystrophy
0.46
muscular dystrophy
0.43
hereditary disease
0.34
Elevated circulating creatine kinase concentration
0.13
Alzheimer disease
0.12
qualitative or quantitative defects of alpha-sarcoglycan
0.12

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

Protein function (UniProt)

Alpha-sarcoglycan

Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix