BICD1

Chr 12

BICD cargo adaptor 1

Also known as: BICD, bic-D 1

NCBI Gene: 636 ENSG00000151746 UniProt: Q96G01 OMIM: 602204

The protein functions as an adaptor that regulates dynein-dynactin motor complex recruitment for intracellular cargo transport between the Golgi and endoplasmic reticulum. Mutations cause autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED), a neuromuscular disorder affecting motor neurons and muscle function. This gene is highly constrained against loss-of-function variants (pLI near 0, LOEUF 0.57), suggesting intolerance to protein disruption.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes an adaptor protein that belongs to the bicaudal D family of dynein cargo adaptors. The encoded protein acts as an intracellular cargo transport cofactor that regulates the microtubule-based loading of cargo onto the dynein motor complex. It also controls dynein motor activity and coordination. It has a domain architecture consisting of coiled-coil domains at the N- and C-termini that are highly conserved in other family members. Naturally occurring mutations in this gene are associated with short telomere length and emphysema. [provided by RefSeq, Aug 2017]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.57

LOEUF

Mechanism· predicted