Gene: [05q31/DIAPH1] diaphanous, Drosophila, homolog of, 1; deafness, autosomal dominant 1 (Konigsmark syndrome; MIM:124900); deafness, progressive low-tone (nonsyndromic sensorineural, 1; MIM:124900); [DFNA1 LFHL1 ]


EXP

The DFNA1 gene is expressed in brain, heart, placenta, lung, kidney, pancreas, liver, and skeletal muscle. A single transcript of 4.7 kb was observed in all tissues, with highest expression in skeletal muscle. The expression of the diaphanous homolog was confirmed in the cochlea by RT-PCR of cochlear RNA. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. The biologic role of this gene in hearing is likely to be the regulation of actin polymerization in hair cells of the inner ear."

REL

GEM:0Xq22/DIAPH2. See also GEM:01p/DFNA2; GEM:19q13/DFNA4; GEM:07p15/DFNA5; GEM:04p163/DFNA6; GEM:01q2/DFNA7; GEM:11q2/TECTA(DFNA8); GEM:14q1/DFNA9; GEM:06q2/DFNA10; GEM:11q2/TECTA(DFNA12); GEM:06p213/DFNA13; GEM:00.0/DFNA14; GEM:05q31/POU4F3(DFNA15); GEM:00.0/DFNA16. On DFNB1 see GEM:13q11/GJB2."

REF

PAT,LIN,LOC "Leon PE &: PNAS, 89, 5181-5184, 1992
PAT "Leon PE &: AJHG, 33, 209-214, 1981
CLO,SEQ,PAT,MUT,LOC "Lynch ED &: Science, 278, N5341, 1315-1318, 1997

KEY

neu

CLA

coding, basic

LOC

05 q31

MIM

MIM: 602121

SYN

DFNA1 LFHL1

鸯铗痂蝈 蜞赕:

  • Gene: [0Xq22/DDP] deafness/dystonia peptide; deafness, X-linked 1, progressive; Mohr-Tranebjaerg syndrome; [DFN1 MTS DXS1 ]