GENETIC ENCYCLOPEDIA
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gene: BICD1

id636
symbolBICD1
organismHomo sapiens
full nameBICD cargo adaptor 1
summaryThis 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]
variant-disease

NM_001714.4(BICD1):c.1704G>C (p.Val568=) AND not specified

GRCh37/hg19 12p11.21(chr12:32291840-32576741)x1 AND See cases

GRCh37/hg19 12p11.21(chr12:32331669-32335627)x1 AND not provided

NM_001714.4(BICD1):c.1980C>T (p.Ala660=) AND not specified

GRCh37/hg19 12p11.21(chr12:32324955-32335627)x1 AND not provided

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