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 ]
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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." |
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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." |
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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 |
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KEY |
neu |
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CLA |
coding, basic |
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LOC |
05 q31 |
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MIM |
MIM: 602121 |
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SYN |
DFNA1 LFHL1 |
