KEGG VARIANT: 4363v1

VARIANT: 4363v1

Entry

4363v1                      Variant

Name

ABCC1 deficiency

Type

Loss of function

Gene

ABCC1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) [KO:K05665]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 158343

Network

nt06538 Cobalamin transport and metabolism

Disease

H00604

Deafness, autosomal dominant

Reference

PMID:31273342

Authors

Li M, Mei L, He C, Chen H, Cai X, Liu Y, Tian R, Tian Q, Song J, Jiang L, Liu C, Wu H, Li T, Liu J, Li X, Yi Y, Yan D, Blanton SH, Hu Z, Liu X, Li J, Ling J, Feng Y

Title

Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.

Journal

Genet Med 21:2744-2754 (2019)
DOI:10.1038/s41436-019-0594-y

LinkDB

DBGET integrated database retrieval system