SGCA

sarcoglycan alpha

2 disorders 2 untyped 17q21.33 gene with protein product

HGNC:10805 Monarch NCBI Gene 6442 ENSG00000108823 UniProt Q16586 OMIM 600119

Previous symbols: ADL. Aliases: SCARMD1, LGMD2D, adhalin, DMDA2, A2.

Normal function · from ai-gene-review (Q16586, commit 79fe13b38970) · AI-generated, not KB evidence

Alpha-sarcoglycan is a critical transmembrane glycoprotein component of the dystrophin-glycoprotein complex that maintains muscle fiber membrane integrity through mechanical linkage between the cytoskeleton and extracellular matrix, possesses ATP-hydrolyzing enzymatic activity, and participates in mechanotransduction signaling. Mutations cause limb-girdle muscular dystrophy type 2D/LGMDR3.

Stabilizing the sarcolemma during muscle contraction by forming a transmembrane bridge within the dystrophin-glycoprotein complex that links the extracellular matrix to the actin cytoskeleton

molecular function: structural constituent of muscle · directly involved in: muscle organ development · locations: sarcolemma; neuromuscular junction · in complex: sarcoglycan complex

Hydrolyzing extracellular ATP in a calcium and magnesium-dependent manner to modulate purinergic signaling at the sarcolemma and neuromuscular junction

molecular function: calcium-dependent ATPase activity · directly involved in: ERK1 and ERK2 cascade · locations: sarcolemma; neuromuscular junction · substrates: ATP(4-); ADP(3-)

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Autosomal Recessive Limb-Girdle Muscular Dystrophy	untyped	mechanism: Sarcolemmal Instability and Failed Membrane Repair subtype: LGMDR3 scoped to subtype: LGMDR3
Sarcoglycanopathy	untyped	mechanism: Sarcoglycan-Sarcospan Subcomplex Assembly at the Sarcolemma subtype: SGCA scoped to subtype: SGCA

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
autosomal recessive limb-girdle muscular dystrophy MONDO:0015152	AR	Definitive 2024-11-14	Autosomal Recessive Limb-Girdle Muscular Dystrophy untyped

Mechanism modules · computed from kb/

sarcolemmal_fragility_myofiber_necrosis via Autosomal Recessive Limb-Girdle Muscular Dystrophy

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.